Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001684928 | SCV001903623 | benign | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001684928 | SCV002403799 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003458747 | SCV004179596 | benign | Developmental and epileptic encephalopathy, 69 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001684928 | SCV005282403 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003948670 | SCV004759444 | likely benign | CACNA1E-related disorder | 2024-05-18 | 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). |