Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001706683 | SCV000716375 | likely benign | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000660319 | SCV000782363 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660319 | SCV001010878 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000660319 | SCV001346450 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-02-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000660319 | SCV002655315 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-22 | 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. |
Prevention |
RCV003900378 | SCV004714475 | likely benign | TGFBR2-related disorder | 2023-09-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV004002500 | SCV004839182 | likely benign | Loeys-Dietz syndrome 2 | 2023-11-30 | criteria provided, single submitter | clinical testing |