Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578429 | SCV000680153 | pathogenic | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 2017-09-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001266266 | SCV001444439 | pathogenic | Inborn genetic diseases | 2018-02-20 | criteria provided, single submitter | clinical testing |