Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760343 | SCV000890202 | pathogenic | not provided | 2018-08-07 | criteria provided, single submitter | clinical testing | The Q2196X variant in the PKD1 gene has been reported previously in multiple individuals with autosomal dominant polycystic kidney disease (Obeidova et al., 2014; Trujillano et al., 2014; Elisakova et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q2196X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q2196X as a pathogenic variant. |
Fulgent Genetics, |
RCV002500982 | SCV002811632 | pathogenic | Polycystic kidney disease, adult type | 2021-12-20 | criteria provided, single submitter | clinical testing | |
Eurofins- |
RCV002500982 | SCV003935102 | pathogenic | Polycystic kidney disease, adult type | 2022-11-04 | criteria provided, single submitter | clinical testing |