Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003315059 | SCV004014566 | uncertain significance | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | Reported in a patient with polycystic kidney disease in published literature (Raj et al., 2017); clinical information not provided; In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 29321346) |
Prevention |
RCV003928983 | SCV004745256 | likely benign | PKD2-related disorder | 2019-09-19 | 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). |