Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001566113 | SCV001789586 | uncertain significance | not provided | 2019-01-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Natera, |
RCV001827489 | SCV002079232 | uncertain significance | Epidermolysis bullosa dystrophica | 2021-08-04 | no assertion criteria provided | clinical testing |