Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000599596 | SCV000710809 | pathogenic | Orofaciodigital syndrome 17 | 2018-03-30 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000851201 | SCV000993452 | likely pathogenic | Mohr syndrome | 2016-05-09 | no assertion criteria provided | research |