Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000366670 | SCV000475645 | benign | Loeys-Dietz syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000406058 | SCV000475646 | benign | Loeys-Dietz syndrome 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000312076 | SCV000475647 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000312076 | SCV001722505 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000860787 | SCV001863137 | benign | not provided | 2018-06-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19004027, 27234654, 25502482) |
Genome Diagnostics Laboratory, |
RCV002278626 | SCV002566127 | benign | Ehlers-Danlos syndrome | 2022-07-16 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003488572 | SCV004234108 | benign | not specified | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 22% of patients studied by a panel of primary immunodeficiencies. Number of patients: 19. Only high quality variants are reported. |