ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg)

dbSNP: rs1567815888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005027895 SCV005649615 uncertain significance Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 2024-02-19 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000723190 SCV000854321 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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