Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000932766 | SCV001078453 | likely benign | Zellweger spectrum disorders | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895670 | SCV004714118 | likely benign | PEX1-related condition | 2022-11-11 | 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, |
RCV000932766 | SCV002076053 | likely benign | Zellweger spectrum disorders | 2017-11-16 | no assertion criteria provided | clinical testing |