Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592223 | SCV000702211 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086538 | SCV001002369 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000592223 | SCV001714167 | uncertain significance | not provided | 2020-04-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945382 | SCV004758543 | likely benign | PKHD1-related disorder | 2023-08-03 | 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). |