Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867285 | SCV001008492 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495271 | SCV002803345 | likely benign | Polycystic kidney disease 4 | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892825 | SCV004715617 | likely benign | PKHD1-related disorder | 2022-10-04 | 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, |
RCV000867285 | SCV001453465 | likely benign | Autosomal recessive polycystic kidney disease | 2020-05-01 | no assertion criteria provided | clinical testing |