ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=)

gnomAD frequency: 0.00086  dbSNP: rs56120877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594800 SCV000701691 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594800 SCV001068327 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821716 SCV002067122 likely benign not specified 2018-06-01 criteria provided, single submitter clinical testing

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