Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV004595616 | SCV005088396 | likely benign | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 2024-06-24 | reviewed by expert panel | curation | This synonymous variant (no REVEL score applicable) has SpliceAI scores ≤0.20 (0.01) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score < 2.0 (0.522) (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 |
RCV001497332 | SCV001702058 | likely benign | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2022-06-13 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004704625 | SCV005206250 | likely benign | not provided | criteria provided, single submitter | not provided |