ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1851C>T (p.His617=)

gnomAD frequency: 0.00001  dbSNP: rs759765699
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001618728 SCV000637090 likely benign not provided 2024-09-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841460 SCV001358792 likely benign Cardiac arrhythmia 2018-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001618728 SCV001842596 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413500 SCV002712154 likely benign Cardiovascular phenotype 2022-04-11 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 RCV001841460 SCV004837166 likely benign Cardiac arrhythmia 2024-02-05 criteria provided, single submitter clinical testing

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