Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001267092 | SCV001445273 | pathogenic | Inborn genetic diseases | 2016-05-05 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000170449 | SCV000196746 | pathogenic | Syndromic intellectual disability | 2014-12-18 | no assertion criteria provided | clinical testing | |
OMIM | RCV000167549 | SCV000218424 | pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2015-03-05 | no assertion criteria provided | literature only |