Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226779 | SCV000287949 | uncertain significance | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2016-03-08 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the OFD1 gene has been identified. This variant has not been reported in the literature. In summary, this is a whole gene duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |