ClinVar Miner

Submissions for variant NM_001958.5(EEF1A2):c.354G>A (p.Ala118=)

gnomAD frequency: 0.00004  dbSNP: rs143957818
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698498 SCV000732762 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001047982 SCV001211969 likely benign Developmental and epileptic encephalopathy, 33 2024-06-10 criteria provided, single submitter clinical testing

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