ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.404T>C (p.Met135Thr)

gnomAD frequency: 0.00467  dbSNP: rs115304957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080772 SCV000658574 benign Hyperkalemic periodic paralysis 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000608062 SCV000714295 benign not specified 2017-08-17 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.
Athena Diagnostics RCV000608062 SCV000843675 benign not specified 2023-11-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713104 SCV005253578 benign not provided criteria provided, single submitter not provided

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