Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198068 | SCV001368853 | likely pathogenic | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM6,PP3,PP4. |
Ambry Genetics | RCV001266847 | SCV001445027 | uncertain significance | Inborn genetic diseases | 2018-12-18 | criteria provided, single submitter | clinical testing |