ClinVar Miner

Submissions for variant NC_000004.12:g.(?_110618105)_(110633018_?)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 RCV001033280 SCV001196587 pathogenic Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2020-01-09 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PITX2 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. Isolated whole-gene deletions of PITX2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 20881294, 22569110, 29100920). Loss-of-function variants in PITX2 are known to be pathogenic (PMID: 19513095, 20881294). For these reasons, this variant has been classified as Pathogenic.

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