ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.228C>T (p.Ile76=)

gnomAD frequency: 0.00005  dbSNP: rs767641205
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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 RCV001842664 SCV001340883 likely benign Cardiac arrhythmia 2018-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001597248 SCV001679168 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001597248 SCV001831120 likely benign not provided 2020-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451358 SCV002736886 likely benign Cardiovascular phenotype 2019-10-07 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 RCV001842664 SCV004833830 likely benign Cardiac arrhythmia 2023-12-13 criteria provided, single submitter clinical testing

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