Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878212 | SCV001021076 | benign | Epileptic encephalopathy | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424427 | SCV004144673 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | FASN: BP4, BP7 |
Prevention |
RCV003938387 | SCV004756499 | likely benign | FASN-related condition | 2019-06-10 | 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). |