Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198318 | SCV000251062 | likely benign | not specified | 2015-06-19 | 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. |
Illumina Clinical Services Laboratory, |
RCV000379708 | SCV000355241 | uncertain significance | Autosomal recessive cerebellar ataxia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000264140 | SCV000355242 | uncertain significance | Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710480 | SCV000840710 | benign | not provided | 2019-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000710480 | SCV001069461 | benign | not provided | 2018-04-13 | criteria provided, single submitter | clinical testing |