Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410535 | SCV000485781 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410535 | SCV001398604 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu3301*) 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 present in population databases (rs757099749, gnomAD 0.006%). 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: 370453). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002505992 | SCV002814809 | pathogenic | Polycystic kidney disease 4 | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002505992 | SCV004204737 | likely pathogenic | Polycystic kidney disease 4 | 2023-01-21 | criteria provided, single submitter | clinical testing |