Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734824 | SCV000862996 | likely benign | not specified | 2018-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000860528 | SCV001000601 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975293 | SCV004787384 | likely benign | PKHD1-related condition | 2022-03-15 | 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, |
RCV000860528 | SCV002083386 | benign | Autosomal recessive polycystic kidney disease | 2020-05-11 | no assertion criteria provided | clinical testing |