ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1745+134A>G

gnomAD frequency: 0.46326  dbSNP: rs843359
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
GeneDx RCV001596270 SCV001829465 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001596270 SCV005302598 benign not provided criteria provided, single submitter not provided

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