Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036123 | SCV001199472 | pathogenic | Autosomal recessive polycystic kidney disease | 2019-12-15 | 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 not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1923*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV002481854 | SCV002803655 | likely pathogenic | Polycystic kidney disease 4 | 2021-10-02 | criteria provided, single submitter | clinical testing |