Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000340241 | SCV000393501 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000403729 | SCV000393502 | likely benign | Loeys-Dietz syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000506132 | SCV000605218 | likely benign | not specified | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000340241 | SCV000739672 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-08-24 | 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. |
Invitae | RCV000340241 | SCV000776731 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000340241 | SCV000913658 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-10-18 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001580008 | SCV001809347 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001580008 | SCV001971547 | likely benign | not provided | no assertion criteria provided | clinical testing |