Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606281 | SCV000725066 | likely benign | not specified | 2017-11-22 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769611 | SCV000901008 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000867381 | SCV001008598 | likely benign | Adams-Oliver syndrome 5 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000867381 | SCV002555102 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270822 | SCV002555103 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000769611 | SCV002689037 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-09 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000606281 | SCV003928450 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905626 | SCV004723625 | likely benign | NOTCH1-related condition | 2020-12-16 | 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). |