ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2990-8C>T

gnomAD frequency: 0.00002  dbSNP: rs369430465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459023 SCV001662856 likely benign Familial hyperkalemic periodic paralysis 2023-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540369 SCV004774962 likely benign SCN4A-related disorder 2019-07-19 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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