ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.924T>C (p.Ala308=)

gnomAD frequency: 0.00006  dbSNP: rs769004874
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 RCV000945176 SCV001091166 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000945176 SCV001746787 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing

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