ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=)

gnomAD frequency: 0.00003  dbSNP: rs774089795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001664522 SCV001879500 benign not specified 2021-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064881 SCV002455065 likely benign Hyperkalemic periodic paralysis 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478995 SCV002799134 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 2021-09-21 criteria provided, single submitter clinical testing

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