Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000125480 | SCV000168932 | pathogenic | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 2014-05-01 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000125480 | SCV000281714 | pathogenic | Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 2014-06-04 | no assertion criteria provided | research |