Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000834134 | SCV000975902 | benign | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genome- |
RCV001593046 | SCV001821819 | benign | Ehlers-Danlos syndrome, arthrochalasia type | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001593045 | SCV001821821 | benign | Osteogenesis imperfecta type I | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001593044 | SCV001821822 | benign | Osteogenesis imperfecta, perinatal lethal | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001593042 | SCV001821823 | benign | Osteogenesis imperfecta type III | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001593043 | SCV001821824 | benign | Osteogenesis imperfecta with normal sclerae, dominant form | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000834134 | SCV005249951 | benign | not provided | criteria provided, single submitter | not provided |