Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029755 | SCV000052408 | uncertain | Marfan syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Uncertain significance. |
Color Diagnostics, |
RCV000771199 | SCV000903188 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-04-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000864829 | SCV001005690 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144113 | SCV003833989 | uncertain significance | not provided | 2019-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000771199 | SCV004093431 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-08 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
ARUP Laboratories, |
RCV003144113 | SCV004564413 | benign | not provided | 2023-03-06 | criteria provided, single submitter | clinical testing |