ClinVar Miner

Submissions for variant NM_198241.3(EIF4G1):c.3698T>C (p.Leu1233Pro)

gnomAD frequency: 0.04275  dbSNP: rs2230570
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001685545 SCV001904479 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685545 SCV005304571 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579377 SCV001807007 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579377 SCV001967834 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003980722 SCV004799360 benign EIF4G1-related disorder 2019-11-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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