ClinVar Miner

Submissions for variant NC_000006.11:g.(?_1610681)_(1612342_?)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 RCV003107401 SCV003793581 pathogenic Axenfeld-Rieger syndrome type 3 2022-10-16 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FOXC1 gene has been identified. Loss-of-function variants in FOXC1 are known to be pathogenic (PMID: 16936096, 20881294). 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 individual(s) with anterior segment dysgenesis and Axenfeld-Rieger syndrome (PMID: 20881294, 22382802). For these reasons, this variant has been classified as Pathogenic.

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