ClinVar Miner

Submissions for variant NC_000004.12:g.(?_88007714)_(88075714_?)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 RCV000708389 SCV000837499 pathogenic Autosomal dominant polycystic kidney disease 2019-07-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKD2 are known to be pathogenic (PMID: 17582161, 22863349). This variant has been observed in an individual affected with autosomal dominant polycystic kidney disease (ADPKD)(PMID: 27499327). A gross deletion of the genomic region encompassing the full coding sequence of the PKD2 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.

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