ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3723C>T (p.Ala1241=)

gnomAD frequency: 0.00006  dbSNP: rs61737829
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001712498 SCV000637140 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618048 SCV000737398 likely benign Cardiovascular phenotype 2016-09-10 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.
Color Diagnostics, LLC DBA Color Health RCV001841471 SCV001343089 likely benign Cardiac arrhythmia 2018-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001712498 SCV001944462 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841471 SCV004817303 likely benign Cardiac arrhythmia 2023-12-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004767352 SCV005381711 likely benign not specified 2024-08-27 criteria provided, single submitter clinical testing

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