Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003332250 | SCV004039615 | pathogenic | not provided | 2023-09-22 | 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31178128) |
OMIM | RCV000785782 | SCV000924347 | risk factor | Encephalopathy, acute, infection-induced, susceptibility to, 9 | 2019-06-18 | no assertion criteria provided | literature only |