Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000349865 | SCV000341308 | uncertain significance | not provided | 2016-04-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001272766 | SCV001628619 | likely benign | Autosomal recessive polycystic kidney disease | 2021-12-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897628 | SCV004717775 | likely benign | PKHD1-related disorder | 2023-10-20 | 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, |
RCV001272766 | SCV001455048 | likely benign | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |