Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000210879 | SCV000267184 | pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2016-05-19 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000755063 | SCV000882881 | likely pathogenic | Syndromic Infantile Encephalopathy | 2016-04-07 | no assertion criteria provided | research |