Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543799 | SCV000634957 | benign | Epileptic encephalopathy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003419942 | SCV004144676 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | FASN: BP4, BS2 |
Prevention |
RCV003900155 | SCV004718229 | benign | FASN-related condition | 2019-06-26 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |