Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000372952 | SCV000333789 | uncertain significance | not provided | 2015-09-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000372952 | SCV001791916 | likely benign | not provided | 2019-10-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347989 | SCV002646248 | likely benign | Cardiovascular phenotype | 2020-08-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Clinical Genetics, |
RCV000372952 | SCV001925062 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000372952 | SCV001968899 | uncertain significance | not provided | no assertion criteria provided | clinical testing |