ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.*2467dup (rs200050352)

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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 RCV001195669 SCV001366065 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-05-13 reviewed by expert panel curation The RUNX1 c.*2467dup variant in the 3' UTR has an MAF of 0.006793 (0.68%, 285/41952 alleles) in the African subpopulation of the gnomAD v3 cohort and is >= 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 5 individuals in the gnomAD v3 population database (BP2). 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, BP2.
Illumina Clinical Services Laboratory,Illumina RCV000313456 SCV000435896 likely benign Familial platelet disorder with associated myeloid malignancy 2016-06-14 criteria provided, single submitter clinical testing

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