Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196068 | SCV001366497 | pathogenic | Marshall syndrome | 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: PM2,PM4,PP3. |
Invitae | RCV001381547 | SCV001579987 | pathogenic | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing |