Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388528 | SCV001589531 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-08-10 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 591918). 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 not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile3243Phefs*21) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). |
Baylor Genetics | RCV003461001 | SCV004204778 | pathogenic | Polycystic kidney disease 4 | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000723101 | SCV000854232 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |