Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426744 | SCV000534540 | likely benign | not specified | 2016-12-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002313142 | SCV000739655 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-01-03 | 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 | RCV000869445 | SCV001010873 | likely benign | Arterial tortuosity syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000426744 | SCV002074408 | likely benign | not specified | 2022-01-22 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV002313142 | SCV003838917 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932684 | SCV004763618 | likely benign | SLC2A10-related condition | 2019-03-21 | 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). |