ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.1329G>A (p.Leu443=)

gnomAD frequency: 0.00001  dbSNP: rs531966163
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 RCV000973679 SCV001121448 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277567 SCV001464527 likely benign Vanishing white matter disease 2020-10-16 no assertion criteria provided clinical testing

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