Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV003128553 | SCV003804595 | uncertain significance | Polycystic kidney disease 4 | 2023-02-27 | criteria provided, single submitter | clinical testing | The detected change has not been reported in control collectives (gnomAD) or in ClinVar. Bioinformatically, the change is classified as "likely disease-causing" (PolyPhen2, Mutation Taster, SIFT, CADDphred 28.2). Based on the current state of knowledge, the variant can still be classified as a “variant of uncertain clinical significance” (ACMG criteria). |