Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003617493 | SCV004457256 | uncertain significance | Holoprosencephaly 5 | 2023-01-28 | 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 affected with ZIC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1392_1406dup, results in the insertion of 5 amino acid(s) of the ZIC2 protein (p.Ala466_Ala470dup), but otherwise preserves the integrity of the reading frame. |