Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176504 | SCV000228172 | pathogenic | not provided | 2015-10-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490727 | SCV002782598 | likely pathogenic | Polycystic kidney disease 4 | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002514445 | SCV003240289 | pathogenic | Autosomal recessive polycystic kidney disease | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln818*) 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 not present in population databases (gnomAD no frequency). 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: 96390). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV002490727 | SCV003809344 | likely pathogenic | Polycystic kidney disease 4 | 2022-01-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002490727 | SCV004204748 | pathogenic | Polycystic kidney disease 4 | 2022-12-29 | criteria provided, single submitter | clinical testing |