Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001570916 | SCV001795288 | uncertain significance | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002072209 | SCV002475174 | likely benign | Koolen-de Vries syndrome | 2021-10-20 | criteria provided, single submitter | clinical testing |