Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000316134 | SCV000342587 | uncertain significance | not provided | 2016-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086866 | SCV001010245 | likely benign | Autosomal recessive polycystic kidney disease | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897635 | SCV004710102 | likely benign | PKHD1-related disorder | 2024-02-15 | 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, |
RCV001086866 | SCV001455251 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-04-30 | no assertion criteria provided | clinical testing |