ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser)

dbSNP: rs1713781736
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, Tarbiat Modares University RCV001199402 SCV001262171 pathogenic Vanishing white matter disease 2019-05-10 criteria provided, single submitter clinical testing

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