ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1449C>T (p.Gly483=)

dbSNP: rs2116864808
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001461476 SCV001665377 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2019-10-24 criteria provided, single submitter clinical testing

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