Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001445675 | SCV001648709 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003886510 | SCV004702954 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | PKHD1: BP4, BP7 |
Prevention |
RCV003973303 | SCV004798219 | likely benign | PKHD1-related disorder | 2022-06-28 | 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). |