Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626791 | SCV000747494 | pathogenic | Primary dilated cardiomyopathy; Cardiomyopathy; Low-output congestive heart failure; Noncompaction cardiomyopathy | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198942 | SCV001369937 | pathogenic | Tibial muscular dystrophy | 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,PM6,PM2. |