Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001866938 | SCV002126699 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003968597 | SCV004782308 | likely benign | PKHD1-related disorder | 2023-12-07 | 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). |