Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome |
RCV001265513 | SCV001443657 | likely pathogenic | Infantile epilepsy syndrome | 2018-01-19 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-01-19 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-12-28 by GTR ID of laboratory name Karolinska University Laboratory . The reporting laboratory might also submit to ClinVar. |