ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.840G>A (p.Glu280=)

gnomAD frequency: 0.00010  dbSNP: rs138820746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470722 SCV001674821 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832616 SCV002079143 likely benign Vanishing white matter disease 2020-09-18 no assertion criteria provided clinical testing

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