Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000543343 | SCV000635017 | benign | Epileptic encephalopathy | 2024-12-13 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004710116 | SCV005254033 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003925627 | SCV004737681 | likely benign | FASN-related disorder | 2019-03-19 | no assertion criteria provided | 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). |