ClinVar Miner

Submissions for variant NC_000006.11:g.(?_75796253)_(75912518_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385960 SCV001585998 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-11-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the COL12A1 gene has been identified. Loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 28973083). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of COL12A1 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 27159402). For these reasons, this variant has been classified as Pathogenic.

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