ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1065-5C>T

gnomAD frequency: 0.00001  dbSNP: rs369660130
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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 RCV002136016 SCV002456485 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543889 SCV004774754 likely benign CLCN1-related disorder 2022-06-09 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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