Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001469187 | SCV001673260 | likely benign | Autosomal recessive polycystic kidney disease | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900619 | SCV004715912 | likely benign | PKHD1-related disorder | 2022-10-03 | 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). |