Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000454178 | SCV000537987 | likely pathogenic | Abnormal brain morphology | criteria provided, single submitter | research | ||
Revvity Omics, |
RCV003139595 | SCV003827432 | uncertain significance | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2019-01-18 | criteria provided, single submitter | clinical testing |