ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.2255G>C (p.Arg752Pro)

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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 RCV002281016 SCV002569334 uncertain significance Platelet-type bleeding disorder 15 criteria provided, single submitter clinical testing

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