Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721383 | SCV000532118 | likely benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170924 | SCV001333572 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270430 | SCV002554263 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270429 | SCV002554264 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002270430 | SCV003213177 | benign | Adams-Oliver syndrome 5 | 2022-04-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170924 | SCV003861104 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Prevention |
RCV004533098 | SCV004732784 | likely benign | NOTCH1-related disorder | 2022-11-22 | 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). |