Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195038 | SCV000249413 | uncertain significance | not specified | 2014-12-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000718317 | SCV000849179 | likely benign | History of neurodevelopmental disorder | 2017-04-08 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Fulgent Genetics, |
RCV000765982 | SCV000897408 | uncertain significance | Cohen syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765982 | SCV001098904 | likely benign | Cohen syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing |