ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1606+20G>A

gnomAD frequency: 0.00787  dbSNP: rs73326363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254460 SCV000303635 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001697688 SCV000532623 benign not provided 2018-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057339 SCV002459536 benign Familial hyperkalemic periodic paralysis 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494702 SCV002798773 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 2022-05-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001697688 SCV005253562 benign not provided criteria provided, single submitter not provided

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