ClinVar Miner

Submissions for variant NM_001013703.4(EIF2AK4):c.4218G>T (p.Gln1406His)

gnomAD frequency: 0.00043  dbSNP: rs55721315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606723 SCV000727499 likely benign not specified 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000890824 SCV001034597 benign not provided 2023-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890824 SCV004041921 benign not provided 2023-10-01 criteria provided, single submitter clinical testing EIF2AK4: BP4, BS1, BS2

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