Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001083552 | SCV001095386 | likely benign | Epileptic encephalopathy | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000949148 | SCV001151442 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | FASN: BP4 |
Prevention |
RCV003960603 | SCV004774240 | likely benign | FASN-related condition | 2020-01-31 | 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). |