Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001531301 | SCV001746331 | pathogenic | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | NOTCH3: PM1:Strong, PM2, PP3, PP4, PS3:Supporting, PS4:Supporting |
Molecular Genetics Laboratory, |
RCV001374645 | SCV001571564 | likely pathogenic | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 2020-07-20 | no assertion criteria provided | clinical testing |