Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000198538 | SCV000253889 | pathogenic | Generalized juvenile polyposis/juvenile polyposis coli | 2015-04-10 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the SMAD4 gene has been identified. Deletion of the SMAD4 has been reported in the literature and known to be pathogenic (PMID: 17873119). For these reasons, this variant has been classified as Pathogenic. |