Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002277974 | SCV002565561 | uncertain significance | Ehlers-Danlos syndrome | 2018-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002391392 | SCV002709754 | likely benign | Cardiovascular phenotype | 2022-04-03 | 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. |
Invitae | RCV003774903 | SCV004595410 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-09-07 | criteria provided, single submitter | clinical testing |