ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1167G>A (p.Val389=)

gnomAD frequency: 0.00064  dbSNP: rs112278360
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000911549 SCV001056620 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003492187 SCV003831873 uncertain significance Leukoencephalopathy with vanishing white matter 5 2020-03-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836009 SCV002079150 likely benign Vanishing white matter disease 2019-10-24 no assertion criteria provided clinical testing

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