Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV004595542 | SCV005088381 | likely benign | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 2024-06-24 | reviewed by expert panel | curation | NM_001754.5(RUNX1):c.968-10C>T is an intronic variant which is not predicted to impact splicing. This variant has a SpliceAI score ≤ 0.20 (0.00) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 0.22 < 2.0) (BP7). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7. |
Labcorp Genetics |
RCV001505792 | SCV001710703 | likely benign | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2021-07-25 | criteria provided, single submitter | clinical testing |