Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002135708 | SCV002451604 | likely benign | Autosomal recessive polycystic kidney disease | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003984230 | SCV004799917 | likely benign | PKHD1-related disorder | 2022-02-18 | 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). |