Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003816104 | SCV004612245 | likely benign | Autosomal recessive polycystic kidney disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003966684 | SCV004782718 | 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). |