ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5109C>A (p.Leu1703=)

dbSNP: rs369975417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606967 SCV000718050 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
All of Us Research Program, National Institutes of Health RCV004002507 SCV004828744 likely benign Cardiac arrhythmia 2023-09-17 criteria provided, single submitter clinical testing

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