Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875416 | SCV001017737 | likely benign | Ethylmalonic encephalopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001615073 | SCV001836251 | likely benign | not provided | 2019-05-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908319 | SCV004722482 | likely benign | ETHE1-related condition | 2019-08-10 | 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, |
RCV000875416 | SCV001456216 | uncertain significance | Ethylmalonic encephalopathy | 2020-01-24 | no assertion criteria provided | clinical testing |