Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001276779 | SCV001676023 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895356 | SCV004708604 | likely benign | PKHD1-related disorder | 2022-04-22 | 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, |
RCV001276779 | SCV001463318 | likely benign | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |