Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728325 | SCV000855881 | uncertain significance | not provided | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001431382 | SCV001634138 | likely benign | Autosomal recessive polycystic kidney disease | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918189 | SCV004732817 | likely benign | PKHD1-related condition | 2022-10-19 | 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). |