Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538302 | SCV000658818 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980042 | SCV004791400 | likely benign | TGFBR2-related condition | 2021-09-14 | 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). |