Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731936 | SCV000859807 | uncertain significance | not provided | 2018-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086246 | SCV001005548 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928238 | SCV004741451 | likely benign | PKHD1-related condition | 2019-03-27 | 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, |
RCV001086246 | SCV001453264 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-09-11 | no assertion criteria provided | clinical testing |