Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623729 | SCV000741516 | pathogenic | Inborn genetic diseases | 2016-05-12 | criteria provided, single submitter | clinical testing | |
Rare Disease Group, |
RCV000787358 | SCV000926320 | likely pathogenic | Neurodevelopmental disorder | 2019-04-09 | criteria provided, single submitter | clinical testing | |
Institute Of Human Genetics Munich, |
RCV003336094 | SCV004045803 | pathogenic | Benign hereditary chorea | 2023-01-30 | criteria provided, single submitter | clinical testing |