Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697984 | SCV000723369 | likely benign | not provided | 2020-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000866623 | SCV001007745 | likely benign | Adams-Oliver syndrome 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000866623 | SCV002554914 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270792 | SCV002554915 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431788 | SCV002743566 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-03-23 | 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. |
Ce |
RCV001697984 | SCV004162042 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7 |
Prevention |
RCV003945509 | SCV004762803 | likely benign | NOTCH1-related condition | 2019-11-21 | 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). |