ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.161A>T (p.Glu54Val)

dbSNP: rs2058004521
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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 RCV004774645 SCV005382813 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-10-29 reviewed by expert panel curation NM_001754.5(RUNX1):c.161A>T (p.Glu54Val) is a missense variant which is completely absent from 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.
Nadeem Sheikh Lab, University of the Punjab RCV002277734 SCV002564650 pathogenic Acute myeloid leukemia no assertion criteria provided clinical testing

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