ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1541del (p.Pro514fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795908 SCV005418812 likely pathogenic Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Familial pancreatic carcinoma; Juvenile polyposis syndrome criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PP4

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