Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196595 | SCV001367203 | pathogenic | Usher syndrome type 2A | 2020-01-19 | 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. This variant was detected in homozygous state. |
Institute of Medical Genetics and Applied Genomics, |
RCV001268167 | SCV001446881 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001196595 | SCV004181882 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |