ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3318+20C>G

gnomAD frequency: 0.00017  dbSNP: rs368263593
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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 RCV002118364 SCV002446732 likely benign Hyperkalemic periodic paralysis 2025-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508079 SCV002810823 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 2021-12-30 criteria provided, single submitter clinical testing

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