Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003391430 | SCV004112631 | uncertain significance | ZEB2-related disorder | 2023-08-03 | criteria provided, single submitter | clinical testing | The ZEB2 c.1447A>G variant is predicted to result in the amino acid substitution p.Ile483Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Invitae | RCV003611644 | SCV004375816 | benign | Mowat-Wilson syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing |