ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.*3977G>A (rs189557277)

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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 RCV001195682 SCV001366078 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-05-13 reviewed by expert panel curation The c.*3977G>A variant in the 3' UTR has an MAF of 0.003831 (0.38%, 12/3132 alleles) in the East Asian subpopulation of the gnomAD v3 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 RCV000289224 SCV000435864 likely benign Familial platelet disorder with associated myeloid malignancy 2016-06-14 criteria provided, single submitter clinical testing

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