ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2284+12C>G

dbSNP: rs1472307602
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770202 SCV004579323 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2025-10-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196294 SCV001366874 uncertain significance Congenital myotonia, autosomal recessive form 2019-09-06 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4.

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