ClinVar Miner

Submissions for variant NC_000006.12:g.(?_52053066)_(52054175_?)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 RCV001031903 SCV001195210 pathogenic Autosomal recessive polycystic kidney disease 2022-06-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 20-21 of the PKHD1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). A similar copy number variant has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 20575693). For these reasons, this variant has been classified as Pathogenic.

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