Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233821 | SCV001406434 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1690*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 960317). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002497800 | SCV002776541 | likely pathogenic | Polycystic kidney disease 4 | 2022-01-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002497800 | SCV004204616 | likely pathogenic | Polycystic kidney disease 4 | 2023-07-02 | criteria provided, single submitter | clinical testing |