ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.*2201dup (rs201214658)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV001195658 SCV001366054 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-05-13 reviewed by expert panel curation The RUNX1 c.*2201dup variant in the 3' UTR has an MAF of 0.02216 (2.2%, 1429/64490 alleles) in the non-Finnish European subpopulation of the gnomAD v3 cohort and is >= 0.0015 (0.15%) (BA1). This variant is detected in a homozygous state in 26 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 RCV000315678 SCV000435902 likely benign Familial platelet disorder with associated myeloid malignancy 2016-06-14 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.