Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000867988 | SCV001009269 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895283 | SCV004717585 | likely benign | PKHD1-related disorder | 2023-05-18 | 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, |
RCV000867988 | SCV001459390 | uncertain significance | Autosomal recessive polycystic kidney disease | 2019-07-15 | no assertion criteria provided | clinical testing |