ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1161C>A (p.Thr387=)

dbSNP: rs775990572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001480441 SCV001684757 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-03-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151330 SCV003839552 likely benign not specified 2022-09-15 no assertion criteria provided clinical testing

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