Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720107 | SCV000520853 | likely benign | not provided | 2019-01-02 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24501762, 28887793, 28940310, 25732998) |
Invitae | RCV002064987 | SCV002391677 | benign | Developmental and epileptic encephalopathy, 36 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002064987 | SCV002524947 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002064987 | SCV002805438 | likely benign | Developmental and epileptic encephalopathy, 36 | 2021-07-19 | criteria provided, single submitter | clinical testing |