Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000919857 | SCV001065211 | likely benign | Autosomal recessive polycystic kidney disease | 2023-05-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895592 | SCV004713203 | likely benign | PKHD1-related disorder | 2023-07-14 | 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). |
Natera, |
RCV000919857 | SCV002075454 | likely benign | Autosomal recessive polycystic kidney disease | 2020-03-21 | no assertion criteria provided | clinical testing |