ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.744C>T (p.Asn248=) (rs1555889947)

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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 RCV001195667 SCV001366063 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-04-10 reviewed by expert panel curation This 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 (BP4). However, evolutionary conservation prediction algorithms predict the site as being moderately conserved (PhyloP score: 2.55 < 0.1 [-14.1;6.4]) and the variant is not the reference nucleotide in one primate and/or three mammal species. It is also absent from population databases (PM2). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4 and PM2.
Invitae RCV000639542 SCV000761117 likely benign Familial platelet disorder with associated myeloid malignancy 2017-10-20 criteria provided, single submitter clinical testing

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