ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2376+10G>A

gnomAD frequency: 0.00004  dbSNP: rs1194053149
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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 RCV001405102 SCV001607019 likely benign Hyperkalemic periodic paralysis 2021-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488013 SCV002794837 likely benign Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 2022-04-26 criteria provided, single submitter clinical testing

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