Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000578299 | SCV000680372 | pathogenic | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 2017-12-13 | criteria provided, single submitter | clinical testing |