Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554756 | SCV000659409 | benign | Adams-Oliver syndrome 5 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000614432 | SCV000715012 | benign | not specified | 2017-04-11 | 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 | RCV000770639 | SCV000739384 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-08-10 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770639 | SCV000902091 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-02-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000554756 | SCV002554920 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270685 | SCV002554922 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000614432 | SCV004029534 | benign | not specified | 2023-07-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736817 | SCV004562112 | benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing |