Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729652 | SCV000857328 | uncertain significance | not provided | 2017-10-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001244705 | SCV001417947 | likely benign | Autosomal recessive polycystic kidney disease | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908033 | SCV004719277 | likely benign | PKHD1-related condition | 2021-09-29 | 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, |
RCV001244705 | SCV002083380 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-06-07 | no assertion criteria provided | clinical testing |