ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4605G>A (p.Ser1535=)

dbSNP: rs182438287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604979 SCV000720397 likely benign not specified 2017-06-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529591 SCV001020168 likely benign Hyperkalemic periodic paralysis 2022-08-04 criteria provided, single submitter clinical testing

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