Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255220 | SCV000322650 | pathogenic | not provided | 2021-12-22 | criteria provided, single submitter | clinical testing | Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV003144184 | SCV003831857 | uncertain significance | Kleefstra syndrome 1 | 2021-01-06 | criteria provided, single submitter | clinical testing |