Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pathology and Laboratory Medicine, |
RCV000501803 | SCV000592872 | uncertain significance | not specified | 2016-07-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000868775 | SCV001010145 | likely benign | Autosomal dominant polycystic kidney disease | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915359 | SCV004739968 | likely benign | PKD2-related condition | 2024-02-16 | 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). |