Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090355 | SCV001245856 | pathogenic | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001200929 | SCV001371866 | pathogenic | Episodic ataxia, type 9 | 2022-12-08 | no assertion criteria provided | literature only | |
OMIM | RCV001260973 | SCV001438344 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2022-12-08 | no assertion criteria provided | literature only | |
Genome |
RCV001265319 | SCV001443436 | likely pathogenic | Complex neurodevelopmental disorder | 2018-09-05 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-05 and interpreted as Likely Pathogenic. Variant was initially reported on 2014-09-16 by GTR ID of laboratory name North East Thames Genetic Service. The reporting laboratory might also submit to ClinVar. |