Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000951379 | SCV000527799 | likely benign | not provided | 2021-06-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002521784 | SCV001097775 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402172 | SCV002714777 | likely benign | Cardiovascular phenotype | 2019-06-09 | 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. |
Genome Diagnostics Laboratory, |
RCV000951379 | SCV002035192 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000951379 | SCV002038203 | likely benign | not provided | no assertion criteria provided | clinical testing |