Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866865 | SCV001008020 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908228 | SCV004725582 | likely benign | PKHD1-related disorder | 2019-06-21 | 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). |
Natera, |
RCV000866865 | SCV002075459 | likely benign | Autosomal recessive polycystic kidney disease | 2021-04-18 | no assertion criteria provided | clinical testing |