ClinVar Miner

Submissions for variant NC_000004.12:g.(?_52023947)_(52038269_?)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 RCV000821294 SCV000962048 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2018-12-11 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SGCB gene has been identified. The boundaries of this event are unknown as the deletion extends 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 SGCB-related conditions. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). For these reasons, this variant has been classified as Pathogenic.

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