ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.825C>T (p.Val275=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002475034 SCV002771180 uncertain significance not provided 2021-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003775544 SCV004603761 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-09 criteria provided, single submitter clinical testing

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