ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3720+7G>A

gnomAD frequency: 0.00001  dbSNP: rs553870552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992895 SCV001145483 benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001421539 SCV001624064 likely benign Familial hyperkalemic periodic paralysis 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489479 SCV002810760 likely benign Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2021-11-02 criteria provided, single submitter clinical testing

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