ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)

dbSNP: rs1594751712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852076 SCV000899601 uncertain significance Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245656 SCV002515754 uncertain significance Platelet-type bleeding disorder 15 no assertion criteria provided clinical testing

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