Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315066 | SCV000739347 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-10-12 | 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 | RCV001410280 | SCV001612324 | likely benign | Aortic aneurysm, familial thoracic 7 | 2018-02-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965303 | SCV004782358 | likely benign | MYLK-related condition | 2020-04-03 | 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). |