ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3948T>C (p.Phe1316=)

gnomAD frequency: 0.00004  dbSNP: rs571705278
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001199874 SCV001370625 likely benign not specified 2020-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003541291 SCV001626862 likely benign not provided 2025-01-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841182 SCV001734642 likely benign Cardiac arrhythmia 2021-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356869 SCV002621934 likely benign Cardiovascular phenotype 2020-10-14 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.
All of Us Research Program, National Institutes of Health RCV001841182 SCV004828546 likely benign Cardiac arrhythmia 2023-12-13 criteria provided, single submitter clinical testing

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