ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala)

gnomAD frequency: 0.00003  dbSNP: rs2056451534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003490163 SCV004236625 uncertain significance not provided 2023-02-19 criteria provided, single submitter clinical testing
Birmingham Platelet Group; University of Birmingham RCV001270586 SCV001450885 likely pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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