Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001481227 | SCV001685565 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900667 | SCV004710752 | likely benign | PKHD1-related disorder | 2021-09-15 | 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). |