Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Genetics in Ophthalmology, |
RCV001250595 | SCV001425463 | likely pathogenic | Leber congenital amaurosis 8 | no assertion criteria provided | research | ||
Centre de Biologie Pathologie Génétique, |
RCV001251961 | SCV001427707 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |