ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1182T>C (p.Phe394=)

gnomAD frequency: 0.00003  dbSNP: rs786202581
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165456 SCV000216186 likely benign Hereditary cancer-predisposing syndrome 2014-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000204529 SCV000259847 likely benign Neurofibromatosis, type 1 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001570293 SCV001794564 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165456 SCV002527378 likely benign Hereditary cancer-predisposing syndrome 2021-09-16 criteria provided, single submitter curation
Genome-Nilou Lab RCV000204529 SCV002561972 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492660 SCV002800069 likely benign Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-11-24 criteria provided, single submitter clinical testing

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