ClinVar Miner

Submissions for variant NM_182972.3(IRF2BP2):c.344A>G (p.Glu115Gly)

dbSNP: rs1672267992
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333699 SCV001526359 uncertain significance Immunodeficiency, common variable, 14 2018-02-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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