ClinVar Miner

Submissions for variant NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=)

gnomAD frequency: 0.00007  dbSNP: rs11543185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285652 SCV001472120 likely benign Familial pulmonary capillary hemangiomatosis 2019-08-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537940 SCV003519582 likely benign not provided 2023-08-05 criteria provided, single submitter clinical testing

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