Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001274853 | SCV001607819 | likely benign | Autosomal recessive polycystic kidney disease | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892819 | SCV004713923 | likely benign | PKHD1-related condition | 2022-12-21 | 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, |
RCV001274853 | SCV001459373 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-05-10 | no assertion criteria provided | clinical testing |