Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734458 | SCV000862603 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000820942 | SCV000961680 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965550 | SCV004777457 | likely benign | PKHD1-related condition | 2023-12-27 | 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, |
RCV000820942 | SCV001463315 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |