ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1453-4A>G

gnomAD frequency: 0.00209  dbSNP: rs111818485
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698206 SCV000526747 likely benign not provided 2021-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559275 SCV000658519 benign Hyperkalemic periodic paralysis 2025-01-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000441102 SCV000856887 likely benign not specified 2017-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481314 SCV002797325 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 2022-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698206 SCV005075525 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing SCN4A: BP4
Breakthrough Genomics, Breakthrough Genomics RCV001698206 SCV005211239 likely benign not provided criteria provided, single submitter not provided

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