Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000210558 | SCV000262977 | likely pathogenic | Inborn genetic diseases | criteria provided, single submitter | clinical testing | Overall WES conclusion for patient, including all identified alterations: LIKELY POSITIVE: Relevant Alteration(s) Detected (Novel Gene) | |
Database of Curated Mutations |
RCV000444628 | SCV000510412 | likely pathogenic | Lymphoblastic leukemia, acute, with lymphomatous features | 2016-05-13 | no assertion criteria provided | literature only | |
OMIM | RCV001255134 | SCV001431237 | pathogenic | Autoinflammation, immune dysregulation, and eosinophilia | 2020-09-01 | no assertion criteria provided | literature only |