Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665876 | SCV000790068 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-03-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665876 | SCV000937289 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-02-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 24162162). ClinVar contains an entry for this variant (Variation ID: 550965). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1816*) 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). |
Natera, |
RCV000665876 | SCV001459191 | pathogenic | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |