Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177800 | SCV000229733 | benign | not specified | 2015-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000234317 | SCV000290301 | benign | Adams-Oliver syndrome 5 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177800 | SCV000520815 | benign | not specified | 2016-12-06 | 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 | RCV000769583 | SCV000738449 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-02-05 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769583 | SCV000900980 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-11-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000234317 | SCV002553824 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269961 | SCV002553826 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000177800 | SCV004029522 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537451 | SCV004725467 | benign | NOTCH1-related disorder | 2019-08-09 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV000177800 | SCV001807775 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000177800 | SCV001969921 | benign | not specified | no assertion criteria provided | clinical testing |