ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1044C>T (p.Val348=)

gnomAD frequency: 0.00004  dbSNP: rs149507492
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 RCV000900319 SCV001044630 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273455 SCV001456502 likely benign Vanishing white matter disease 2020-05-02 no assertion criteria provided clinical testing

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