ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.824C>T (p.Pro275Leu) (rs201164283)

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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 RCV000539000 SCV000965635 benign Familial platelet disorder with associated myeloid malignancy 2019-08-02 reviewed by expert panel curation The NM_001754.4:c.824C>T (p.Pro275Leu) variant has an MAF of 0.00225 (0.2%, 26/11566 alleles) in the Latino subpopulation of the ExAC cohort that is >/= 0.0015 (0.15%) (BA1). This missense variant has a REVEL score <0.15 (0.146) and SSF and MES predict 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). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP4.
Invitae RCV000539000 SCV000638159 likely benign Familial platelet disorder with associated myeloid malignancy 2017-03-19 criteria provided, single submitter clinical testing

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