ClinVar Miner

Submissions for variant NM_002049.3(GATA1):c.94G>A (p.Val32Ile) (rs782698349)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533431 SCV000640018 benign Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2019-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766096 SCV000897571 uncertain significance Complete trisomy 21 syndrome; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; Anemia without thromobocytopenia, X-linked 2018-10-31 criteria provided, single submitter clinical testing

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