ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.174G>A (p.Ala58=)

gnomAD frequency: 0.00031  dbSNP: rs139614533
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244516 SCV000308685 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520190 SCV001729247 benign Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2025-01-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000244516 SCV002070554 likely benign not specified 2019-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487125 SCV002802821 likely benign Down syndrome; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Beta-thalassemia-X-linked thrombocytopenia syndrome; X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 2021-10-27 criteria provided, single submitter clinical testing

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