ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.356_358delTGG

dbSNP: rs1569079249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004702313 SCV005205641 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-09-12 reviewed by expert panel curation NC_000021.9:g.34880712_34880714del is an in-frame deletion which affects residues within the Runt Homology Domain (AA 89-204), but does not occur in an established hotspot residue (PM4_supporting). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting, PM4_supporting.
PreventionGenetics, part of Exact Sciences RCV000680409 SCV000807780 uncertain significance not provided 2014-01-03 criteria provided, single submitter clinical testing

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