ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.-9C>G (rs864622289)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204818 SCV000259983 uncertain significance Juvenile polyposis syndrome 2015-08-16 criteria provided, single submitter clinical testing This sequence change falls in the 5'UTR of the SMAD4 gene. It does not change the encoded amino acid sequence of the SMAD4 protein. This variant is not present in population databases and has not been published in the literature. In summary, this is a novel 5'UTR change with uncertain impact on SMAD4 transcription. It has been classified as a Variant of Uncertain Significance.

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