Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592266 | SCV000709398 | uncertain significance | not provided | 2018-07-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084430 | SCV001004169 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915738 | SCV004734765 | likely benign | PKHD1-related disorder | 2019-05-28 | 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, |
RCV001084430 | SCV002080981 | likely benign | Autosomal recessive polycystic kidney disease | 2018-05-01 | no assertion criteria provided | clinical testing |