ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.780A>G (p.Pro260=)

gnomAD frequency: 0.00004  dbSNP: rs1339281633
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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 RCV000864739 SCV001005585 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540182 SCV004777843 likely benign CLCN1-related disorder 2020-04-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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