Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001195988 | SCV001366415 | pathogenic | Age related macular degeneration 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,PP3,PP4. |
Department of Clinical Genetics, |
RCV000787779 | SCV000926787 | likely pathogenic | Stargardt disease | 2018-04-01 | no assertion criteria provided | research |