Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235839 | SCV001711152 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2018-02-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000952592 | SCV001811910 | likely benign | not provided | 2019-03-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279661 | SCV002565562 | uncertain significance | Ehlers-Danlos syndrome | 2022-06-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004029842 | SCV005032240 | likely benign | Cardiovascular phenotype | 2023-02-16 | 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. |