ClinVar Miner

Submissions for variant NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=)

gnomAD frequency: 0.00089  dbSNP: rs148332808
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001748 SCV001159357 likely benign Familial pulmonary capillary hemangiomatosis 2019-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003698821 SCV004460514 benign not provided 2024-08-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953423 SCV004769552 likely benign EIF2AK4-related disorder 2019-07-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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