Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000417095 | SCV000494645 | pathogenic | DYRK1A-related intellectual disability syndrome | 2015-10-23 | criteria provided, single submitter | clinical testing | Loss of function mutation of DYRK1A gene cause mental retardation with autosomal dominant microcephaly. This variant has been reported to be present in one patient with similar phenotype (PMID: 23160955) |
OMIM | RCV000417095 | SCV000056592 | pathogenic | DYRK1A-related intellectual disability syndrome | 2012-12-21 | no assertion criteria provided | literature only |