Total submissions: 10
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 | |
Database of Curated Mutations |
RCV000428878 | SCV000506366 | likely pathogenic | Neuroblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439566 | SCV000506367 | likely pathogenic | Medulloblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000422315 | SCV000506368 | likely pathogenic | Gastric adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000429528 | SCV000506369 | likely pathogenic | Brainstem glioma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440238 | SCV000506370 | likely pathogenic | Astrocytoma | 2016-05-31 | 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 |