ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.281G>C (p.Ser94Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003991900 SCV004810274 likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-04-04 criteria provided, single submitter clinical testing

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