ClinVar Miner

Submissions for variant NC_000007.13:g.(?_143013209)_(143049107_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001938875 SCV002201083 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-03-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CLCN1 gene has been identified. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with CLCN1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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