Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268914 | SCV001448166 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001843578 | SCV002103033 | likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2021-06-04 | criteria provided, single submitter | clinical testing | PS2, PM2 |