Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001413872 | SCV001615994 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2023-02-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002368294 | SCV002658986 | likely benign | Cardiovascular phenotype | 2020-03-22 | 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. |
Prevention |
RCV003963308 | SCV004783223 | likely benign | GDF2-related condition | 2020-04-21 | 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). |