Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197230 | SCV001367867 | likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger) | 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: PM3,PM2,PP3,PP5. |
Baylor Genetics | RCV003473734 | SCV004201598 | likely pathogenic | Heimler syndrome 2 | 2022-11-17 | criteria provided, single submitter | clinical testing |