Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624179 | SCV000742209 | pathogenic | Inborn genetic diseases | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003228963 | SCV003926344 | pathogenic | not provided | 2022-11-18 | criteria provided, single submitter | clinical testing | Reported as a de novo variant in a proband referred for exome sequencing; however, detailed clinical information was not provided (Powis et al., 2018); Nonsense 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: 29565416) |
Ce |
RCV003228963 | SCV004042381 | pathogenic | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | NOTCH1: PVS1, PM2 |