ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)

dbSNP: rs104894808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852178 SCV000899850 likely pathogenic Macrothrombocytopenia 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245660 SCV002515538 likely pathogenic Thrombocytopenia, X-linked, with or without dyserythropoietic anemia criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002245660 SCV002556538 uncertain significance Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 2019-10-24 criteria provided, single submitter clinical testing

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