Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235498 | SCV001055944 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2019-02-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585866 | SCV001819213 | likely benign | not provided | 2019-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454086 | SCV002614631 | likely benign | Cardiovascular phenotype | 2021-08-31 | 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 |
RCV003968397 | SCV004782009 | likely benign | COL1A2-related condition | 2019-08-13 | 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). |