ClinVar Miner

Submissions for variant NC_000006.12:g.(?_52055567)_(52055749_?)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 RCV001031065 SCV001194371 pathogenic Autosomal recessive polycystic kidney disease 2019-07-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant has not been reported in the literature in individuals with PKHD1-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 19 of the PKHD1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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