ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)

dbSNP: rs1598406692
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995862 SCV001150245 pathogenic Congenital myasthenic syndrome 16 2019-06-11 criteria provided, single submitter clinical testing

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