Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986863 | SCV001136008 | likely pathogenic | Seizures, benign familial infantile, 3 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001265279 | SCV001443396 | likely pathogenic | Complex neurodevelopmental disorder | 2016-06-20 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-06-20 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-05-06 by GTR ID of laboratory name 500035. The reporting laboratory might also submit to ClinVar. |