Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788784 | SCV000928026 | likely pathogenic | not provided | 2018-10-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001536064 | SCV001752761 | likely pathogenic | Polycystic kidney disease, adult type | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003411734 | SCV004106912 | likely pathogenic | PKD1-related condition | 2023-08-09 | criteria provided, single submitter | clinical testing | The PKD1 c.8016+2T>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in PKD1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |