ClinVar Miner

Submissions for variant NC_000006.11:g.(?_51483869)_(51949741_?)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 RCV001959191 SCV002243721 pathogenic Autosomal recessive polycystic kidney disease 2021-01-16 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PKHD1 gene has been identified. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with PKHD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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