Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000331514 | SCV000335883 | pathogenic | not provided | 2015-10-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000798170 | SCV000937771 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-09-29 | 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: 283651). This variant has not been reported in the literature in individuals affected 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.Glu2731Asnfs*4) 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). |
Baylor Genetics | RCV003463750 | SCV004204558 | likely pathogenic | Polycystic kidney disease 4 | 2023-09-02 | criteria provided, single submitter | clinical testing |