Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001559705 | SCV001781994 | likely benign | not provided | 2020-02-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424981 | SCV002727540 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-05-14 | 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. |
Invitae | RCV002569009 | SCV003243575 | benign | Adams-Oliver syndrome 5 | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001559705 | SCV004162047 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7 |
Prevention |
RCV004536181 | SCV004711727 | likely benign | NOTCH1-related disorder | 2020-08-24 | 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). |