ClinVar Miner

Submissions for variant NM_198241.3(EIF4G1):c.849C>G (p.Leu283=)

gnomAD frequency: 0.00001  dbSNP: rs530344643
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579325 SCV001806807 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579325 SCV001968737 likely benign not provided no assertion criteria provided clinical testing

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