ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.968-10C>A

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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 RCV001078213 SCV001244322 likely pathogenic Familial platelet disorder with associated myeloid malignancy 2019-08-18 reviewed by expert panel curation The M_001754.4:c.968-10C>A variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). RNA studies of the proband (RT-PCR), identified missplicing associated with the germline variant leading to RNA encoding a truncated protein (p.Ala324Leufs*7) (PS3; internal laboratory data). This variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_ supporting; internal laboratory data). There is 1 proband meeting at least one of the RUNX1 phenotypic criteria with confirmed de novo (both maternity and paternity confirmed) occurrence (PS2_ supporting; internal laboratory data). In summary, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PS3, PM2, PS4_supporting, PS2_supporting.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001312002 SCV001502412 likely pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing

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