ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.93G>T (p.Gly31=)

dbSNP: rs368193049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864137 SCV001004897 benign Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2023-08-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816961 SCV002065561 uncertain significance not specified 2017-11-30 criteria provided, single submitter clinical testing

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