ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4435-10C>T

gnomAD frequency: 0.00004  dbSNP: rs747594441
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001731810 SCV000729935 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001731810 SCV001007956 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841777 SCV001356717 likely benign Cardiac arrhythmia 2018-11-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841777 SCV004815241 likely benign Cardiac arrhythmia 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533254 SCV004723594 likely benign SCN5A-related disorder 2023-09-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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