Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000576878 | SCV000678290 | likely pathogenic | Ulnar deviation of the wrist | 2016-11-01 | criteria provided, single submitter | research | |
Equipe Genetique des Anomalies du Developpement, |
RCV000824875 | SCV000965782 | likely pathogenic | Distal arthrogryposis | 2014-01-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000991229 | SCV001142625 | pathogenic | PERCHING syndrome | 2020-01-09 | no assertion criteria provided | literature only |