ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1047C>T (p.Asp349=)

gnomAD frequency: 0.00001  dbSNP: rs377364050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841086 SCV001356759 likely benign Cardiac arrhythmia 2019-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003657891 SCV002493811 likely benign not provided 2024-07-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841086 SCV004833273 likely benign Cardiac arrhythmia 2023-12-13 criteria provided, single submitter clinical testing

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