Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002310964 | SCV000319664 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-05-21 | 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 | RCV000524749 | SCV000659464 | benign | Adams-Oliver syndrome 5 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001580093 | SCV000728224 | likely benign | not provided | 2021-06-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000524749 | SCV002554289 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270166 | SCV002554290 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330612 | SCV004038999 | benign | not specified | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542945 | SCV004761633 | likely benign | NOTCH1-related disorder | 2019-12-10 | 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). |
Genome Diagnostics Laboratory, |
RCV001580093 | SCV001809651 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001580093 | SCV001931405 | likely benign | not provided | no assertion criteria provided | clinical testing |