ClinVar Miner

Submissions for variant NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg)

gnomAD frequency: 0.00518  dbSNP: rs35480871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103836 SCV000885354 likely benign Familial pulmonary capillary hemangiomatosis 2022-03-31 criteria provided, single submitter clinical testing
Invitae RCV000757210 SCV001118652 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000757210 SCV004169077 likely benign not provided 2023-11-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003918239 SCV004730693 benign EIF2AK4-related condition 2019-05-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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