ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1054G>A (p.Gly352Arg) (rs121912581)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000009075 SCV000029292 pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2004-03-13 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000021707 SCV000042373 pathogenic JP and JP/HHT 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.
UniProtKB/Swiss-Prot RCV000059731 SCV000091301 not provided not provided no assertion provided not provided

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