Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698292 | SCV000532632 | benign | not provided | 2019-04-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28785287) |
Genetic Services Laboratory, |
RCV000435230 | SCV000593468 | benign | not specified | 2016-11-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259949 | SCV002539565 | benign | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001698292 | SCV004140931 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ASXL3: BP4, BS1, BS2 |