ClinVar Miner

Submissions for variant NM_005359.5:c.1063_1064insGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTATTGATTG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806991 SCV000947016 uncertain significance Juvenile polyposis syndrome 2018-12-10 criteria provided, single submitter clinical testing This variant is a tandem duplication of the genomic region encompassing part of exon 9 (c.1063_1139+10dup) of the SMAD4 gene. The effect of this variant on the SMAD4 protein is uncertain. This variant has not been reported in the literature in individuals with SMAD4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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