Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000310909 | SCV000345615 | uncertain significance | not provided | 2016-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001458615 | SCV001662439 | likely benign | Autosomal recessive polycystic kidney disease | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897657 | SCV004716991 | likely benign | PKHD1-related disorder | 2023-08-23 | 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). |