ClinVar Miner

Submissions for variant NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466845 SCV002761627 uncertain significance Vanishing white matter disease 2021-05-14 criteria provided, single submitter clinical testing The EIF2B4 c.1288A>G variant is classified as VUS (PM2) This variant is absent from population databases (PM2).

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