ClinVar Miner

Submissions for variant NM_002049.4(GATA1):c.1179C>T (p.Ser393=)

dbSNP: rs781868016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002105278 SCV002396808 likely benign Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis 2020-12-27 criteria provided, single submitter clinical testing

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