Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Pathology Research Laboratory, |
RCV001542142 | SCV001760810 | pathogenic | Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML | 2021-07-06 | criteria provided, single submitter | curation | PVS1, PS4, PM2 |
OMIM | RCV000022569 | SCV000043858 | pathogenic | Deafness-lymphedema-leukemia syndrome | 2011-09-04 | no assertion criteria provided | literature only |