Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000985126 | SCV002518531 | pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000985126 | SCV003825176 | uncertain significance | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000985126 | SCV001133110 | likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2019-09-26 | no assertion criteria provided | clinical testing |