Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004191 | SCV001163024 | pathogenic | Autosomal recessive polycystic kidney disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001004191 | SCV002240841 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-12-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 813375). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs779168950, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ser2877Glnfs*7) 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). |
Fulgent Genetics, |
RCV002489514 | SCV002809708 | likely pathogenic | Polycystic kidney disease 4 | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Genomics And Bioinformatics Analysis Resource, |
RCV002489514 | SCV004024107 | likely pathogenic | Polycystic kidney disease 4 | no assertion criteria provided | research |