Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228817 | SCV000290265 | benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000357716 | SCV000333256 | likely benign | not specified | 2015-08-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000357716 | SCV000525649 | benign | not specified | 2016-10-11 | 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 | RCV000770634 | SCV000738351 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-04-08 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Center for Human Genetics, |
RCV000660157 | SCV000782151 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770634 | SCV000902085 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-07-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000228817 | SCV002554509 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270043 | SCV002554510 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002292494 | SCV002585104 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7, BS1, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000357716 | SCV003928452 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002292494 | SCV004562860 | benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing |