Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Clinical Genetics, |
RCV003321588 | SCV004026006 | likely pathogenic | not provided | 2022-03-15 | criteria provided, single submitter | clinical testing | PM1, PP4_MOD, PP3, PP2, PM2_SUP |
Database of Curated Mutations |
RCV000427799 | SCV000504777 | likely pathogenic | Acute myeloid leukemia | 2016-03-10 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000438020 | SCV000504778 | not provided | Myelodysplastic syndrome | 2016-03-10 | no assertion provided | literature only |