Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731259 | SCV000859054 | uncertain significance | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001494248 | SCV001698900 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965528 | SCV004778246 | likely benign | PKHD1-related condition | 2019-08-22 | 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). |