Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002314285 | SCV000738728 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-01-11 | 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 | RCV002233029 | SCV000755983 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-01-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002285375 | SCV002576184 | likely benign | not provided | 2018-10-09 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Prevention |
RCV003917983 | SCV004728499 | likely benign | COL5A2-related condition | 2019-05-23 | 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). |