Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415240 | SCV000492791 | uncertain significance | Autism; Global developmental delay | 2015-03-31 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000435181 | SCV000510860 | likely benign | not provided | 2016-10-27 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000435181 | SCV001012136 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198470 | SCV001369406 | uncertain significance | Autism spectrum disorder due to AUTS2 deficiency | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. |
Gene |
RCV000435181 | SCV001916756 | benign | not provided | 2019-10-11 | criteria provided, single submitter | clinical testing |