Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175337 | SCV000226808 | benign | not specified | 2015-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000233036 | SCV000290258 | benign | Adams-Oliver syndrome 5 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000175337 | SCV000529311 | benign | not specified | 2016-12-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002314605 | SCV000739373 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-11-30 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Genome- |
RCV000233036 | SCV002554905 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269935 | SCV002554906 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000175337 | SCV004029544 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000175337 | SCV001807497 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000175337 | SCV001974393 | benign | not specified | no assertion criteria provided | clinical testing |