ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2509-3C>T

gnomAD frequency: 0.00208  dbSNP: rs375341574
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001289381 SCV000721471 likely benign not provided 2019-07-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26471370)
Labcorp Genetics (formerly Invitae), Labcorp RCV000638260 SCV000759747 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289381 SCV001477151 likely benign not provided 2020-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530786 SCV004744279 benign CLCN1-related disorder 2020-02-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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