Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000895210 | SCV001039239 | likely benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910659 | SCV004727050 | likely benign | AGXT-related condition | 2023-04-19 | 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, |
RCV001276583 | SCV001462988 | uncertain significance | Primary hyperoxaluria, type I | 2020-02-13 | no assertion criteria provided | clinical testing |