Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001172354 | SCV001335405 | likely pathogenic | Intellectual disability, autosomal dominant 6 | 2017-04-04 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed). |
Genome |
RCV001265474 | SCV001443611 | likely pathogenic | Complex neurodevelopmental disorder | 2017-01-20 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-01-20 and interpreted as Likely Pathogenic. Variant was initially reported on 2014-09-04 by GTR ID of laboratory name 1019. The reporting laboratory might also submit to ClinVar. |