ClinVar Miner

Submissions for variant NM_001414.4(EIF2B1):c.389A>G (p.Tyr130Cys)

gnomAD frequency: 0.00006  dbSNP: rs754044114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662063 SCV000784399 uncertain significance Vanishing white matter disease 2018-03-05 criteria provided, single submitter clinical testing

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