ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.698G>A (p.Arg233His) (rs150042294)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV000471855 SCV000965643 likely benign Familial platelet disorder with associated myeloid malignancy 2019-07-26 reviewed by expert panel curation The NM_001754.4:c.698G>A (p.Arg233His) variant has a MAF of 0.00142 (0.142%, 34/23,970 alleles) in the African subpopulation of the gnomAD cohort that is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). We allow a variant to reach a likely benign classification based on BS1 alone if there is no contradictory evidence supporting pathogenicity. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1.
Invitae RCV000471855 SCV000560764 likely benign Familial platelet disorder with associated myeloid malignancy 2017-08-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000680432 SCV000807803 uncertain significance not provided 2014-01-03 criteria provided, single submitter clinical testing

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