ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1845+18A>T

dbSNP: rs775429476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182715 SCV002349852 likely benign Familial hyperkalemic periodic paralysis 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498161 SCV002806483 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 2021-08-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706285 SCV005211236 likely benign not provided criteria provided, single submitter not provided

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