ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.762C>T (p.Cys254=)

gnomAD frequency: 0.00006  dbSNP: rs772027125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545204 SCV000636341 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-02 criteria provided, single submitter clinical testing

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