ClinVar Miner

Submissions for variant NM_138694.3(PKHD1):c.8108-?_8173+?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 RCV000206598 SCV000260957 pathogenic Autosomal recessive polycystic kidney disease 2015-09-30 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exon 51 of the PKHD1 gene. This variant has been seen in trans with a pathogenic variant in PKHD1 in an individual affected with polycystic kidney disease in our laboratory. For these reasons, this variant has been classified as Pathogenic.

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