Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420247 | SCV001622667 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PVS1_very strong;PM2_supporting |
Gene |
RCV003229053 | SCV003926319 | uncertain significance | not provided | 2022-11-17 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |