Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000790932 | SCV000930184 | likely pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000791086 | SCV000930357 | likely pathogenic | Osteogenesis imperfecta | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000791087 | SCV000930358 | likely pathogenic | Osteogenesis imperfecta type III | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000791088 | SCV000930359 | likely pathogenic | Ehlers-danlos syndrome, arthrochalasia type, 2 | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268104 | SCV001446758 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing |