ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.459_470dup (p.Ala164_Val165insAlaAlaAlaAla)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003393516 SCV004130166 benign not provided 2022-03-01 criteria provided, single submitter clinical testing IRF2BPL: BS1, BS2
GeneDx RCV003393516 SCV005401592 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing In-frame insertion of 4 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003929052 SCV004738352 likely benign IRF2BPL-related disorder 2021-06-29 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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