Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001472001 | SCV001676126 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003956038 | SCV004770755 | likely benign | PKHD1-related disorder | 2022-09-28 | 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, |
RCV001472001 | SCV002078051 | likely benign | Autosomal recessive polycystic kidney disease | 2019-04-17 | no assertion criteria provided | clinical testing |