ClinVar Miner

Submissions for variant NC_000012.12:g.(?_51912465)_(51920903_?)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 RCV000813984 SCV000954371 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2021-08-04 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ACVRL1 gene has been identified. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). 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 individuals with hereditary hemorrhagic telangiectasia (PMID: 18312453; Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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