Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UCLA Clinical Genomics Center, |
RCV000190480 | SCV000206788 | pathogenic | DYRK1A-related intellectual disability syndrome | 2014-09-15 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001265238 | SCV001443352 | pathogenic | Complex neurodevelopmental disorder | 2018-04-06 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-04-06 and interpreted as Pathogenic. Variant was initially reported on 2012-11-30 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar. |