Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002508274 | SCV002818054 | pathogenic | not provided | 2022-07-01 | 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: 31192531) |
New Leaf Center | RCV000984523 | SCV001132581 | likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 2019-04-30 | no assertion criteria provided | clinical testing |