Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730934 | SCV000858701 | uncertain significance | not provided | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001469182 | SCV001673254 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000730934 | SCV001787277 | likely benign | not provided | 2020-04-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947926 | SCV004759705 | likely benign | PKHD1-related disorder | 2021-05-20 | 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). |