ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.573C>T (p.Asp191=)

gnomAD frequency: 0.00001  dbSNP: rs779591903
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841078 SCV001356592 likely benign Cardiac arrhythmia 2019-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003657771 SCV002391802 likely benign not provided 2024-08-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841078 SCV004843785 likely benign Cardiac arrhythmia 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671239 SCV005159780 likely benign Cardiovascular phenotype 2024-03-24 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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