Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231798 | SCV000290309 | benign | Adams-Oliver syndrome 5 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000601328 | SCV000720339 | benign | not specified | 2017-07-14 | 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 | RCV002313956 | SCV000738446 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-03-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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- |
RCV000231798 | SCV002553775 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270063 | SCV002553776 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000601328 | SCV004029516 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV002313956 | SCV004239543 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004532951 | SCV004720731 | benign | NOTCH1-related disorder | 2019-08-09 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |