Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000436384 | SCV000510823 | likely benign | not provided | 2016-07-22 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000436384 | SCV000570786 | likely benign | not provided | 2020-03-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086567 | SCV000659408 | benign | Adams-Oliver syndrome 5 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314122 | SCV000739372 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-06-22 | 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. |
Genome- |
RCV001086567 | SCV002555162 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270247 | SCV002555163 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502458 | SCV002798477 | likely benign | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-08-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000436384 | SCV004162066 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | NOTCH1: BS1 |