Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757625 | SCV000885924 | pathogenic | not provided | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477741 | SCV002792243 | pathogenic | Polycystic kidney disease, adult type | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938142 | SCV004750387 | pathogenic | PKD1-related condition | 2023-10-30 | criteria provided, single submitter | clinical testing | The PKD1 c.4177C>T variant is predicted to result in premature protein termination (p.Gln1393*). This variant has been reported in individuals with polycystic kidney disease (He et al. 2018. PubMed ID: 30333007; Zacchia et al. 2021. PubMed ID: 33964006). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |