Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235534 | SCV000947016 | uncertain significance | Juvenile polyposis syndrome | 2018-11-27 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals with SMAD4-related conditions. 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. |