Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000191048 | SCV000192494 | pathogenic | SSR4-congenital disorder of glycosylation | 2014-03-15 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000191048 | SCV000246125 | pathogenic | SSR4-congenital disorder of glycosylation | 2013-11-14 | no assertion criteria provided | research |