ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3442-15C>A

gnomAD frequency: 0.00002  dbSNP: rs763401184
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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 RCV002202529 SCV002359547 likely benign Hyperkalemic periodic paralysis 2022-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005017115 SCV005651743 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-06-18 criteria provided, single submitter clinical testing

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