ClinVar Miner

Submissions for variant NC_000023.10:g.(?_70443558)_(70444409_?)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 RCV003122097 SCV003790779 pathogenic Charcot-Marie-Tooth Neuropathy X 2022-09-28 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the GJB1 gene has been identified. Loss-of-function variants in GJB1 are known to be pathogenic (PMID: 11266688). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 10587015, 20532933, 24724718, 27549087). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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