ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) (rs121912580)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000444854 SCV000507372 likely pathogenic Adenocarcinoma of stomach 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 Adenocarcinoma of prostate 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
OMIM RCV000009074 SCV000029291 pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2004-03-13 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000021722 SCV000042388 pathogenic JP and JP/HHT 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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