ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4533G>A (p.Arg1511=)

gnomAD frequency: 0.00001  dbSNP: rs372874010
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843190 SCV001349696 likely benign Cardiac arrhythmia 2019-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001644936 SCV001859689 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001644936 SCV002418789 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001843190 SCV004830725 likely benign Cardiac arrhythmia 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671236 SCV005159798 likely benign Cardiovascular phenotype 2024-05-24 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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