Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540217 | SCV000634928 | benign | Epileptic encephalopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531875 | SCV001747187 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | FASN: BP4, BS2 |
Prevention |
RCV003960294 | SCV004774896 | likely benign | FASN-related condition | 2024-01-04 | 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). |