Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062325 | SCV001227119 | likely pathogenic | Holoprosencephaly 5 | 2019-08-15 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been observed in individual(s) with holoprosencephaly (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This variant, c.1200_1205del, is a complex sequence change that results in the deletion of 3 amino acids and the insertion of 1 amino acid in the ZIC2 protein (p.Lys400_Tyr402delinsAsn). |