Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531586 | SCV000634993 | benign | Epileptic encephalopathy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003409788 | SCV004144670 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | FASN: BP4, BP7 |
Prevention |
RCV003905372 | SCV004725248 | likely benign | FASN-related condition | 2019-02-20 | 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). |