Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV001662799 | SCV001879460 | pathogenic | not provided | 2020-09-18 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. |
Fulgent Genetics, |
RCV000735685 | SCV002778037 | pathogenic | Polycystic kidney disease, adult type | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000735685 | SCV000863830 | pathogenic | Polycystic kidney disease, adult type | 2018-03-12 | no assertion criteria provided | clinical testing |