ClinVar Miner

Submissions for variant NM_001013703.4(EIF2AK4):c.1537C>G (p.Gln513Glu)

gnomAD frequency: 0.00029  dbSNP: rs200393344
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002226078 SCV002504281 likely benign not provided 2019-05-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002226078 SCV004248865 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing

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