Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000625579 | SCV001367343 | pathogenic | Polycystic kidney disease, adult type | 2019-09-04 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4,PP5. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625579 | SCV000746077 | pathogenic | Polycystic kidney disease, adult type | 2017-09-18 | no assertion criteria provided | clinical testing |