Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000681719 | SCV000843172 | pathogenic | not provided | 2017-10-09 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV002289955 | SCV002580123 | pathogenic | Polycystic kidney disease, adult type | 2022-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000681719 | SCV002586954 | pathogenic | not provided | 2022-04-22 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele 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: 22508176, 28502323, 31740684, 17582161, 30927425) |
Gharavi Laboratory, |
RCV000681719 | SCV000809172 | pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |