Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227892 | SCV000291338 | likely benign | Autosomal recessive polycystic kidney disease | 2023-03-27 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000227892 | SCV000798990 | likely benign | Autosomal recessive polycystic kidney disease | 2018-04-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955372 | SCV004775376 | likely benign | PKHD1-related condition | 2019-07-23 | 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). |