Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423983 | SCV000526027 | benign | not specified | 2016-11-28 | 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 | RCV001085141 | SCV000561065 | benign | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714216 | SCV000844909 | benign | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244906 | SCV002513926 | benign | Developmental and epileptic encephalopathy, 28 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244905 | SCV002513927 | benign | Autosomal recessive spinocerebellar ataxia 12 | 2021-12-05 | criteria provided, single submitter | clinical testing |