Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599094 | SCV000710555 | uncertain significance | not provided | 2018-02-14 | criteria provided, single submitter | clinical testing | The c.2141-4C>G variant in the PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. Although this variant may reduce the quality of the splice acceptor site, splice prediction algorithms are inconclusive about the effect of this deletion on splicing. The c.2141-4C>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.2141-4C>G as a variant of uncertain significance. |
Invitae | RCV001276780 | SCV004535712 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276780 | SCV001463319 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |