ClinVar Miner

Submissions for variant NM_018947.6(CYCS):c.290C>A (p.Ala97Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280982 SCV002569280 likely pathogenic Thrombocytopenia 4 criteria provided, single submitter clinical testing

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