ClinVar Miner

Submissions for variant NM_182972.3(IRF2BP2):c.1626A>C (p.Gly542=)

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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 RCV002577435 SCV002934177 likely benign not provided 2021-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896235 SCV004716974 likely benign IRF2BP2-related disorder 2023-08-14 no assertion criteria provided 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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