Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547455 | SCV000634946 | benign | Epileptic encephalopathy | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962495 | SCV004789202 | benign | FASN-related condition | 2019-04-17 | 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). |