ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.499G>C (p.Asp167His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005049844 SCV005682633 uncertain significance Hemolytic anemia due to erythrocyte adenosine deaminase overproduction; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Transient myeloproliferative syndrome; Beta-thalassemia-X-linked thrombocytopenia syndrome; X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 2024-04-30 criteria provided, single submitter clinical testing

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