Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000576559 | SCV000677110 | likely pathogenic | not specified | 2019-03-29 | criteria provided, single submitter | research | |
OMIM | RCV000856610 | SCV000999144 | pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 2019-11-25 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001291147 | SCV001479523 | likely pathogenic | Syndromic neurodevelopmental disorder | no assertion criteria provided | research |