Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824905 | SCV000965828 | likely pathogenic | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 2014-01-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000824905 | SCV001430677 | pathogenic | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 2020-08-20 | no assertion criteria provided | literature only |