Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001822198 | SCV002064909 | benign | not specified | 2018-09-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002074255 | SCV002441707 | benign | Autosomal dominant polycystic kidney disease | 2023-05-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503311 | SCV002804386 | likely benign | Polycystic kidney disease 2 | 2021-12-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003956390 | SCV004769458 | likely benign | PKD2-related disorder | 2019-12-31 | 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). |