Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV001533151 | SCV001745896 | uncertain significance | Polycystic kidney disease 4 | 2021-07-08 | criteria provided, single submitter | clinical testing | The detected change has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or in the literature. In bioinformatics, the change is classified as "probably disease-causing". It has been detected together with a large deletion (exon 39-41) of the PKHD1 gene, but without segregation analysis for compound status. The variant is currently to be regarded as a "variant of uncertain significance" (ACMG criteria). |