ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4923G>T (p.Gly1641=)

gnomAD frequency: 0.00001  dbSNP: rs758659451
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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 RCV001843054 SCV001344601 likely benign Cardiac arrhythmia 2019-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003541473 SCV002225761 likely benign not provided 2024-06-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001843054 SCV004842078 likely benign Cardiac arrhythmia 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033045 SCV005031279 likely benign Cardiovascular phenotype 2023-11-13 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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