ClinVar Miner

Submissions for variant NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2])

dbSNP: rs111659103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579598 SCV001807851 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579598 SCV001974749 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003910905 SCV004728697 likely benign EIF4G1-related disorder 2019-11-27 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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