Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002088249 | SCV002372530 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2021-04-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002391216 | SCV002696217 | likely benign | Cardiovascular phenotype | 2021-04-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Ce |
RCV003458125 | SCV004185463 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | COL1A2: PM2:Supporting, BP4, BP7 |