ClinVar Miner

Submissions for variant NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys)

dbSNP: rs1057519922
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000441372 SCV000506802 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420226 SCV000506803 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428731 SCV000506804 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438981 SCV000506805 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421132 SCV000506806 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431386 SCV000506807 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
OMIM RCV000513666 SCV000609497 pathogenic Immunodeficiency, developmental delay, and hypohomocysteinemia 2018-08-28 no assertion criteria provided literature only

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