Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000637194 | SCV000758642 | benign | Epileptic encephalopathy | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003420110 | SCV004144680 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | FASN: BP4, BP7 |
Prevention |
RCV003965339 | SCV004780052 | likely benign | FASN-related condition | 2019-09-04 | 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). |