Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001561534 | SCV001784159 | pathogenic | not provided | 2020-01-21 | 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 a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29605618, 23225201) |
Gene |
RCV000258862 | SCV000328637 | not provided | Action myoclonus-renal failure syndrome | no assertion provided | literature only |