Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660640 | SCV000782763 | pathogenic | Wieacker-Wolff syndrome | 2018-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001008707 | SCV001168486 | likely pathogenic | not provided | 2019-08-21 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |