ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.273+7G>A

gnomAD frequency: 0.00001  dbSNP: rs369039376
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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 RCV000883374 SCV001026678 likely benign Familial hyperkalemic periodic paralysis 2022-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507563 SCV002802952 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 2022-04-21 criteria provided, single submitter clinical testing

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