Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV003387531 | SCV004099047 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2023-08-16 | criteria provided, single submitter | clinical testing | PVS1, PS2, PS4_Supporting |
Genome |
RCV001265133 | SCV001443167 | pathogenic | Complex neurodevelopmental disorder | 2016-03-29 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-03-29 and interpreted as Pathogenic. Variant was initially reported on 2013-05-22 by GTR ID of laboratory name 1238. The reporting laboratory might also submit to ClinVar. |