ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.645C>T (p.Ser215=)

gnomAD frequency: 0.00001  dbSNP: rs746163138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000931666 SCV001077337 likely benign Neurofibromatosis, type 1 2024-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169354 SCV003861704 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-01-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004997508 SCV005624627 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing

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