Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000123761 | SCV000167104 | benign | not specified | 2014-03-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000123761 | SCV000612436 | benign | not specified | 2016-11-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000535333 | SCV000632363 | benign | Familial hemiplegic migraine | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259666 | SCV002539777 | benign | Alternating hemiplegia of childhood 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259668 | SCV002539778 | benign | Developmental and epileptic encephalopathy 98 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259667 | SCV002539779 | benign | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259665 | SCV002539780 | benign | Migraine, familial hemiplegic, 2 | 2021-12-05 | criteria provided, single submitter | clinical testing |