Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227887 | SCV000290302 | benign | Adams-Oliver syndrome 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000769581 | SCV000319612 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-05-11 | 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. |
Gene |
RCV000435657 | SCV000532861 | benign | not specified | 2016-10-27 | 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, |
RCV000769581 | SCV000900978 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-06-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000227887 | SCV002553811 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270060 | SCV002553812 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000435657 | SCV003928448 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001727652 | SCV004161993 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7, BS1, BS2 |
ARUP Laboratories, |
RCV001727652 | SCV004564039 | benign | not provided | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977681 | SCV004798621 | benign | NOTCH1-related condition | 2019-04-30 | 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, |
RCV000435657 | SCV001809101 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000435657 | SCV001958919 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727652 | SCV001971779 | likely benign | not provided | no assertion criteria provided | clinical testing |