ClinVar Miner

Submissions for variant NM_198241.3(EIF4G1):c.481A>G (p.Thr161Ala)

gnomAD frequency: 0.99790  dbSNP: rs13319149
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004716750 SCV005302636 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529161 SCV001742163 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529161 SCV001808097 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529161 SCV001963924 benign not specified no assertion criteria provided clinical testing

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