Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000149586 | SCV000196562 | pathogenic | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 2014-12-04 | no assertion criteria provided | literature only | |
Gene |
RCV000149586 | SCV000297980 | not provided | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | no assertion provided | literature only |