Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517064 | SCV000614472 | pathogenic | not provided | 2016-08-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003409737 | SCV004108209 | pathogenic | PKD1-related condition | 2023-06-21 | criteria provided, single submitter | clinical testing | The PKD1 c.11713-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported to segregate with polycystic kidney disease in an affected father and child (Audrézet et al 2016. PubMed ID: 26139440). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Variants that disrupt the consensus splice acceptor site in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic. |