ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.786C>T (p.Ser262=)

gnomAD frequency: 0.00001  dbSNP: rs746749167
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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 RCV001500051 SCV001704828 likely benign Hyperkalemic periodic paralysis 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001581160 SCV001819974 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001581160 SCV003818673 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533897 SCV004732966 likely benign SCN4A-related disorder 2020-06-10 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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