Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Harry Perkins Institute Of Medical Research, |
RCV000172977 | SCV000222094 | pathogenic | Arthrogryposis multiplex congenita | 2014-12-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000186598 | SCV000240205 | pathogenic | Lethal congenital contracture syndrome 9 | 2015-06-04 | no assertion criteria provided | literature only | |
Lupski Lab, |
RCV000186598 | SCV001167562 | uncertain significance | Lethal congenital contracture syndrome 9 | no assertion criteria provided | research |