Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001434432 | SCV001637238 | likely benign | Adams-Oliver syndrome 5 | 2021-04-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000867071 | SCV001795091 | likely benign | not provided | 2018-11-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001434432 | SCV002554471 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271092 | SCV002554473 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345979 | SCV002621416 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-03-23 | 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. |
Prevention |
RCV003948127 | SCV004758334 | likely benign | NOTCH1-related condition | 2022-02-22 | 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). |