ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.96C>T (p.His32=) (rs748758482)

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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 RCV000465979 SCV001244331 uncertain significance Familial platelet disorder with associated myeloid malignancy 2020-01-13 reviewed by expert panel curation Evolutionary conservation prediction algorithms for this synonymous variant predict the site as not being highly conserved (PhyloP score: -0.84 < 0.1 [-14.1;6.4]). However, the synonymous variant is predicted by SSF and MES to lead to an increase in the canonical splice site score (SSF: +0.5% score change at donor splice site) and a decrease of the canonical splice site score by >10% (MES: -16.0% score change), but no putative cryptic splice sites are created. 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: None.
Invitae RCV000465979 SCV000560769 likely benign Familial platelet disorder with associated myeloid malignancy 2019-12-31 criteria provided, single submitter clinical testing

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