ClinVar Miner

Submissions for variant NM_001414.4(EIF2B1):c.392C>T (p.Ser131Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003991708 SCV004809859 uncertain significance Leukoencephalopathy with vanishing white matter 1 2024-04-04 criteria provided, single submitter clinical testing

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