ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.762G>T (p.Pro254=)

dbSNP: rs200504378
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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 RCV002137892 SCV002453789 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2021-04-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711867 SCV005257690 likely benign not provided criteria provided, single submitter not provided

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