Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001199164 | SCV001370160 | pathogenic | Chondrosarcoma | 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: PP5,PP4,PP3,PM2,PM4,PVS1. |
Clinical Genetics Laboratory, |
RCV001528142 | SCV001739353 | pathogenic | Multiple congenital exostosis | 2021-05-20 | no assertion criteria provided | clinical testing |