Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050110 | SCV001214202 | pathogenic | Autosomal recessive polycystic kidney disease | 2022-02-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 846728). 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.Arg319Glyfs*25) 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). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002497395 | SCV002809924 | likely pathogenic | Polycystic kidney disease 4 | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002497395 | SCV004204806 | likely pathogenic | Polycystic kidney disease 4 | 2022-03-02 | criteria provided, single submitter | clinical testing |