Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592861 | SCV000708166 | uncertain significance | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532612 | SCV003452128 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900349 | SCV004710082 | likely benign | PKHD1-related disorder | 2023-10-24 | 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). |