ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1209G>A (p.Ala403=)

gnomAD frequency: 0.00002  dbSNP: rs143448763
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 RCV000932554 SCV001078238 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273456 SCV001456503 uncertain significance Vanishing white matter disease 2020-01-17 no assertion criteria provided clinical testing

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