ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.854del (p.Asn285fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004442735 SCV004933970 pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2024-02-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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