Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000677374 | SCV000803637 | pathogenic | Moyamoya disease with early-onset achalasia | 2018-08-16 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000755174 | SCV000882999 | pathogenic | Moyamoya disease 1 | no assertion criteria provided | research |