Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067721 | SCV001232793 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-06-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 861244). 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.Cys1336Valfs*12) 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, |
RCV002482115 | SCV002779604 | likely pathogenic | Polycystic kidney disease 4 | 2021-12-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002482115 | SCV004204659 | likely pathogenic | Polycystic kidney disease 4 | 2023-05-14 | criteria provided, single submitter | clinical testing |