Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415965 | SCV000493236 | uncertain significance | not provided | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001272768 | SCV001698544 | likely benign | Autosomal recessive polycystic kidney disease | 2022-08-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950325 | SCV004762258 | likely benign | PKHD1-related disorder | 2022-10-30 | 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, |
RCV001272768 | SCV001455059 | likely benign | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |