ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.753C>T (p.Ser251=)

gnomAD frequency: 0.00001  dbSNP: rs1450460950
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000917618 SCV001062903 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-07-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895577 SCV004716439 likely benign GATA2-related condition 2024-02-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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