Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415421 | SCV000492932 | pathogenic | Stage 5 chronic kidney disease; Hepatic cysts; Dilatation of the cerebral artery | 2015-01-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481287 | SCV002802124 | pathogenic | Polycystic kidney disease, adult type | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003225066 | SCV003921470 | pathogenic | not provided | 2022-11-01 | 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: 17574468) |