Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001707779 | SCV000720987 | likely benign | not provided | 2019-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002063916 | SCV002400900 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2021-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395580 | SCV002698396 | likely benign | Cardiovascular phenotype | 2021-06-25 | 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. |