Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597922 | SCV000708051 | uncertain significance | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001272767 | SCV001695476 | likely benign | Autosomal recessive polycystic kidney disease | 2023-09-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945430 | SCV004764056 | likely benign | PKHD1-related disorder | 2021-12-14 | 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, |
RCV001272767 | SCV001455051 | likely benign | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |