Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000949143 | SCV001095381 | benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2022-11-12 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279654 | SCV002564788 | uncertain significance | Osteogenesis imperfecta | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434311 | SCV002752241 | likely benign | Cardiovascular phenotype | 2019-10-13 | 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. |