Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV001260910 | SCV001437678 | likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | criteria provided, single submitter | clinical testing | PVS1 |