ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1845+11G>T

gnomAD frequency: 0.00002  dbSNP: rs761523703
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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 RCV002191307 SCV002484933 likely benign Familial hyperkalemic periodic paralysis 2023-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500406 SCV002804507 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 2022-02-17 criteria provided, single submitter clinical testing

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