Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001238235 | SCV001411034 | pathogenic | Autosomal recessive polycystic kidney disease | 2019-10-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln504*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759322460, ExAC 0.01%). 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. |
Baylor Genetics | RCV003469446 | SCV004204822 | likely pathogenic | Polycystic kidney disease 4 | 2021-11-13 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001238235 | SCV002081075 | pathogenic | Autosomal recessive polycystic kidney disease | 2018-09-22 | no assertion criteria provided | clinical testing |