ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.935-5T>C

gnomAD frequency: 0.00007  dbSNP: rs759172833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003541440 SCV001687070 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007154 SCV004830995 uncertain significance Cardiac arrhythmia 2023-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988648 SCV005500167 benign Cardiovascular phenotype 2024-11-27 criteria provided, single submitter clinical testing This alteration is classified as 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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