Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000224154 | SCV000238828 | likely benign | not provided | 2019-08-07 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224154 | SCV000280898 | likely benign | not provided | 2016-01-11 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001088837 | SCV001014268 | likely benign | Multiple acyl-CoA dehydrogenase deficiency | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927723 | SCV004747765 | likely benign | ETFB-related condition | 2022-02-28 | 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). |