Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002547175 | SCV001091499 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-05-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001565566 | SCV001788934 | likely benign | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445095 | SCV002682855 | likely benign | Cardiovascular phenotype | 2020-04-27 | 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. |