ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.909dup (p.Arg304fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005033652 SCV005667223 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-04-11 criteria provided, single submitter clinical testing

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