Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000834041 | SCV000975809 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV001554194 | SCV001775411 | benign | Alternating hemiplegia of childhood 1 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260062 | SCV002539941 | benign | Developmental and epileptic encephalopathy 98 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260061 | SCV002539942 | benign | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002260060 | SCV002539943 | benign | Migraine, familial hemiplegic, 2 | 2021-12-05 | criteria provided, single submitter | clinical testing |