Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092471 | SCV001248995 | likely pathogenic | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001092471 | SCV003286341 | pathogenic | not provided | 2022-05-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys463Serfs*6) in the ZMYND11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZMYND11 are known to be pathogenic (PMID: 25217958). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZMYND11-related conditions. For these reasons, this variant has been classified as Pathogenic. |