Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000123769 | SCV000167112 | benign | not specified | 2014-01-31 | 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. |
Invitae | RCV001501294 | SCV001706101 | likely benign | Familial hemiplegic migraine | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259684 | SCV002539857 | benign | Alternating hemiplegia of childhood 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259686 | SCV002539858 | benign | Developmental and epileptic encephalopathy 98 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259685 | SCV002539859 | benign | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002259683 | SCV002539860 | benign | Migraine, familial hemiplegic, 2 | 2021-12-05 | criteria provided, single submitter | clinical testing |