Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002474094 | SCV002770141 | uncertain significance | not provided | 2022-06-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002571507 | SCV003444587 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-12 | criteria provided, single submitter | clinical testing |