ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.668-13_668-11del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003070754 SCV003444750 likely benign Juvenile polyposis syndrome 2024-06-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003585346 SCV004362343 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-21 criteria provided, single submitter clinical testing This variant causes a deletion of 3 nucleotides from positions -11 to -13 in intron 5 of the SMAD4 gene. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with SMAD4-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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