Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Donald Williams Parsons Laboratory, |
RCV000487433 | SCV000292258 | pathogenic | Rosette-forming glioneuronal tumor | criteria provided, single submitter | clinical testing | ||
Equipe Genetique des Anomalies du Developpement, |
RCV000210485 | SCV001736964 | pathogenic | Encephalocraniocutaneous lipomatosis | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000210485 | SCV000266574 | pathogenic | Encephalocraniocutaneous lipomatosis | 2016-08-11 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV000210485 | SCV000882922 | likely pathogenic | Encephalocraniocutaneous lipomatosis | 2017-05-25 | no assertion criteria provided | research | |
Gene |
RCV000210485 | SCV002099545 | not provided | Encephalocraniocutaneous lipomatosis | no assertion provided | literature only |