ClinVar Miner

Submissions for variant NM_000903.3(NQO1):c.559C>T (p.Pro187Ser)

gnomAD frequency: 0.20869  dbSNP: rs1800566
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018300 SCV000038579 risk factor Benzene toxicity, susceptibility to 2008-07-01 no assertion criteria provided literature only
OMIM RCV000018301 SCV000038580 risk factor Leukemia, post-chemotherapy, susceptibility to 2008-07-01 no assertion criteria provided literature only
OMIM RCV000018302 SCV000038581 pathogenic Breast cancer, post-chemotherapy poor survival in 2008-07-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434090 SCV000505705 not provided Lung carcinoma 2016-03-10 no assertion provided literature only
PreventionGenetics, part of Exact Sciences RCV003974839 SCV004798096 benign NQO1-related disorder 2019-10-17 no assertion criteria provided 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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