ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144996 SCV003830690 uncertain significance not provided 2020-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778837 SCV004603337 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-13 criteria provided, single submitter clinical testing

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