ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3747C>T (p.Phe1249=)

gnomAD frequency: 0.00003  dbSNP: rs756102773
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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 RCV003766629 SCV000557158 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841392 SCV001347614 likely benign Cardiac arrhythmia 2018-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003338600 SCV004059334 likely benign Cardiovascular phenotype 2023-08-30 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.

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