Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626654 | SCV000747356 | pathogenic | Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001199198 | SCV001370220 | pathogenic | Polycystic kidney disease 2 | 2016-01-01 | 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. |