ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2094C>T (p.Pro698=)

dbSNP: rs758874120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001418312 SCV001620537 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705813 SCV005226863 likely benign not provided criteria provided, single submitter not provided

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