ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.1317C>T (p.Ser439=) (rs1060504667)

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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 RCV001197290 SCV001367940 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-04-10 reviewed by expert panel curation Although this variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2), the synonymous variant is predicted by SSF and MES to lead to either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created; in addition, evolutionary conservation prediction algorithms predict the site as not being highly conserved (PhyloP score: -0.44 < 0.1 [-14.1;6.4]) (BP4+BP7). 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: BP4, BP7, PM2.
Invitae RCV000462380 SCV000560763 likely benign not provided 2016-10-19 criteria provided, single submitter clinical testing

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