Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Center for Mendelian Genomics, |
RCV000191913 | SCV000246136 | pathogenic | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 2015-05-19 | criteria provided, single submitter | research | |
OMIM | RCV000167575 | SCV000218455 | pathogenic | Diamond-Blackfan anemia 10 | 2014-09-01 | no assertion criteria provided | literature only |