Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516699 | SCV000614569 | pathogenic | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing | The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
Fulgent Genetics, |
RCV002497005 | SCV002775475 | pathogenic | Polycystic kidney disease 2 | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000516699 | SCV000809152 | pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |