Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731123 | SCV000858900 | uncertain significance | not provided | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001494344 | SCV001698997 | likely benign | Autosomal recessive polycystic kidney disease | 2023-06-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983190 | SCV004797958 | likely benign | PKHD1-related disorder | 2022-09-28 | 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). |