ClinVar Miner

Submissions for variant NC_000004.11:g.(?_52899577)_(52899826_?)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 RCV003122211 SCV003788820 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-08-20 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the SGCB gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 28687063, 28883879). It has also been observed to segregate with disease in related individuals. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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