Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001027665 | SCV001190227 | likely pathogenic | Intellectual disability, autosomal dominant 40 | 2019-06-07 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001265372 | SCV001443497 | pathogenic | CHAMP1-related syndrome | 2019-01-14 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-01-14 and interpreted as Pathogenic. Variant was initially reported on 2018-06-22 by GTR ID of laboratory name Unite de Recherche Inserm Institut IMAGINE. The reporting laboratory might also submit to ClinVar. |