Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000292867 | SCV000345961 | uncertain significance | not provided | 2016-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001495667 | SCV001700351 | likely benign | Autosomal recessive polycystic kidney disease | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897661 | SCV004711816 | likely benign | PKHD1-related condition | 2022-02-04 | 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). |