Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000677381 | SCV001428703 | pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2021-12-21 | criteria provided, single submitter | research | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268253 | SCV001447048 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000677381 | SCV000803644 | pathogenic | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2018-08-17 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001291439 | SCV001479941 | likely pathogenic | Neurodevelopmental disorder | no assertion criteria provided | research |