Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578274 | SCV000680363 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001265498 | SCV001443642 | pathogenic | Complex neurodevelopmental disorder | 2016-02-16 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-02-16 and interpreted as Pathogenic. Variant was initially reported on 2014-01-14 by GTR ID of laboratory name 193071. The reporting laboratory might also submit to ClinVar. |
Channelopathy- |
RCV001265498 | SCV004232419 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |