Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003314870 | SCV004014240 | uncertain significance | not provided | 2023-06-06 | criteria provided, single submitter | clinical testing | Observed with a second variant in a patient with polycystic kidney disease in published literature (Garcia-Gonzalez et al., 2007); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 17574468) |
Prevention |
RCV003946488 | SCV004772331 | likely benign | PKD1-related disorder | 2023-08-24 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |