Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214097 | SCV001385762 | pathogenic | Autosomal recessive polycystic kidney disease | 2019-09-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant has not been reported in the literature in individuals with PKHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu2546Phefs*33) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. |
Baylor Genetics | RCV003462722 | SCV004204576 | likely pathogenic | Polycystic kidney disease 4 | 2023-08-20 | criteria provided, single submitter | clinical testing |