Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530247 | SCV000659493 | likely benign | Adams-Oliver syndrome 5 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315059 | SCV000738371 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-07-09 | 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. |
Gene |
RCV001591308 | SCV001823499 | likely benign | not provided | 2020-02-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000530247 | SCV002555111 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270711 | SCV002555112 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323618 | SCV004029569 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |