ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)

dbSNP: rs121912580
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009074 SCV000029291 pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2004-03-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444854 SCV000507372 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422272 SCV000507373 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431620 SCV000507374 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443856 SCV000507375 likely pathogenic Prostate adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425012 SCV000507376 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435285 SCV000507377 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only

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