Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000416179 | SCV000493174 | likely pathogenic | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | NOTCH3: PM1:Strong, PM2, PS4:Moderate, PP2, PP4, BP4 |
Gene |
RCV000416179 | SCV002499947 | uncertain significance | not provided | 2022-03-31 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 9388399, 27781952, 27455010, 19174371, 21616505, 11102981, 25344745, 31589614, 33478738, 24844136, 23639391) |
Athena Diagnostics Inc | RCV000416179 | SCV004229490 | pathogenic | not provided | 2022-10-06 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features of CADASIL. 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). |
Gharavi Laboratory, |
RCV000416179 | SCV000920662 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research | |
Genome Diagnostics Laboratory, |
RCV000416179 | SCV002035213 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000416179 | SCV002036413 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |