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PROBABLY GENETIC
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Week of Jun 08, 2026
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VARIANT ALERT
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NF1
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Neurofibromatosis, type 1
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New lab alert: Clinical Genetics Laboratory, Skane University Hos submitted P/LP data for NF1 for the first time.
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New Submissions
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NHS Central & South Genomic Laboratory Hub · Neurofibromatosis, type 1
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Pathogenic
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NHS Central & South Genomic Laboratory Hub · Neurofibromatosis, type 1
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Pathogenic
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NHS Central & South Genomic Laboratory Hub · Neurofibromatosis, type 1
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Pathogenic
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NHS Central & South Genomic Laboratory Hub · Neurofibromatosis, type 1
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Pathogenic
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NHS Central & South Genomic Laboratory Hub · Hereditary cancer-predisposing syndrome
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Pathogenic
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NHS Central & South Genomic Laboratory Hub · Neurofibromatosis, type 1
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Pathogenic
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NHS Central & South Genomic Laboratory Hub · Neurofibroma
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Pathogenic
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NHS Central & South Genomic Laboratory Hub · Neurofibromatosis, type 1
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Pathogenic
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+ 11 more submissions
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Key Opinion Leaders
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David H Gutmann, MD
Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
3 publications on NF1
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Contact
PubMed
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Christine A Pratilas, MD
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
2 publications on NF1
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Contact
PubMed
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Ren-Yuan Bai, MD
Kennedy Krieger Institute, Baltimore, MD, USA.
2 publications on NF1
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Contact
PubMed
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Pierre Wolkenstein, MD
Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.
2 publications on NF1
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PubMed
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Sirkku Peltonen, MD
University of Turku and Turku University Hospital, Turku, Finland.
2 publications on NF1
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PubMed
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Top Submitting Labs
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1
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Labcorp Genetics (formerly Invitae), Labcorp
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4293
P/LP
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2
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Ambry Genetics
Aliso Viejo, United States
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1464
P/LP
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3
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GeneDx
Gaithersburg, United States
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929
P/LP
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4
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Genome-Nilou Lab
Tehran, Iran
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593
P/LP
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5
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Genome Diagnostics Laboratory, The Hospital f
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281
P/LP
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6
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Center for Human Genetics, Inc, Center for Hu
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215
P/LP
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Recent Publications
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Manjunath GK, Kanchi LP, Dakal TC et al. — Funct Integr Genomics · 2026-06
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Trapani L, Gortani G, Magnolato A et al. — J Paediatr Child Health · 2026-06
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Hartung TI, Dinga GT, Butschan J et al. — Quant Imaging Med Surg · 2026-06
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Machulak M, Zwierzchowska M, Łysak K et al. — Front Oncol · 2026-06
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Karam K, Charro K, Alirkilicarslan A et al. — Eur J Case Rep Intern Med · 2026-06
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Active Clinical Trials
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National Cancer Institute (NCI)
PI: Brigitte C Widemann, M.D. · National Cancer Institute (NCI)
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Recruiting
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The Children's Tumor Foundation
PI: Kate Kelts, B.S.N. · The Children's Tumor Foundation
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Recruiting
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Healx Limited · Phase 2
PI: Miriam Bornhorst · Lurie's Children's Hospital
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Recruiting
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Patient Advocacy
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Children's Tumor Foundation
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Classification Breakdown
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P 27.5%
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LP 6.3%
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VUS 37.6%
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B/LB 28.6%
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