Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711008 | SCV000841324 | pathogenic | not provided | 2023-06-28 | criteria provided, single submitter | clinical testing | This variant has been identified in at least one individual with clinical features associated with CADASIL. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. Greater than 90% of NOTCH3 pathogenic variants associated with CADASIL involve the gain or loss of a cysteine residue within the epidermal growth factor (EGF)-like repeat domain (PMID: 32457593, 20301673). |
Mayo Clinic Laboratories, |
RCV000711008 | SCV004225183 | pathogenic | not provided | 2022-08-29 | criteria provided, single submitter | clinical testing | PP3, PM1, PM2, PS1, PS4_moderate |
Molecular Genetics Laboratory, |
RCV001175252 | SCV001338834 | pathogenic | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 2020-02-14 | no assertion criteria provided | clinical testing |