Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002181513 | SCV002486693 | benign | Mowat-Wilson syndrome | 2021-07-12 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV002181513 | SCV004100651 | uncertain significance | Mowat-Wilson syndrome | criteria provided, single submitter | clinical testing | The missense variant p.I1179V in ZEB2 (NM_014795.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The missense variant c.3535A>G (p.I1179V) in ZEB2 (NM_014795.4) is observed in 1/30616 (0.0033%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. For these reasons, this variant has been classified as Uncertain Significance. |