ClinVar Miner

Submissions for variant NC_000011.9:g.(?_31284590)_(32456911_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000708019 SCV000837129 pathogenic Aniridia 1; Irido-corneo-trabecular dysgenesis 2019-03-29 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PAX6 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. Deletion of the PAX6 gene has been reported in individuals affected with aniridia (PMID: 27124303, 26661695). In addition, it has been reported as part of a larger deletion with the WT1 gene in individuals affected with WAGR syndrome (PMID: 17630404, 24138039). Loss-of-function variants in PAX6 are known to be pathogenic (PMID: 12634864). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386651 SCV001586959 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2020-07-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the WT1 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. Deletion of the WT1 gene has been reported in an individual affected with Wilms tumor and developmental structural anomalies of the genitourinary tract (PMID: 15150775). In addition, it has been reported as part of a larger deletion with the PAX6 gene in individuals affected with WAGR syndrome (PMID: 17630404, 24138039) Loss-of-function variants in WT1 are known to be pathogenic (PMID: 15150775). For these reasons, this variant has been classified as Pathogenic.

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