Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875218 | SCV001017510 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495313 | SCV002801818 | likely benign | Polycystic kidney disease 4 | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895361 | SCV004711774 | likely benign | PKHD1-related disorder | 2022-08-17 | 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). |