ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.*2193del (rs201977305)

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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 RCV001195657 SCV001366053 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-05-13 reviewed by expert panel curation The RUNX1 c.*2193del variant in the 3' UTR has an MAF of 0.007918 (0.79%, 69/8714 alleles) in the African subpopulation of the gnomAD v2.1.1 cohort and is >= 0.0015 (0.15%) (BA1). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1.
Illumina Clinical Services Laboratory,Illumina RCV000372699 SCV000435903 likely benign Familial platelet disorder with associated myeloid malignancy 2016-06-14 criteria provided, single submitter clinical testing

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