Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578447 | SCV000680437 | pathogenic | Wieacker-Wolff syndrome | 2019-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002279364 | SCV002567732 | pathogenic | not provided | 2022-02-21 | criteria provided, single submitter | clinical testing | Frameshift 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33619735) |