ClinVar Miner

Submissions for variant NC_000006.11:g.(?_51900369)_(51900539_?)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 RCV004578601 SCV005066103 pathogenic Autosomal recessive polycystic kidney disease 2023-05-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 28 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).

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