Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193382 | SCV000247679 | uncertain significance | not specified | 2015-05-26 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000193382 | SCV000334784 | likely benign | not specified | 2015-10-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000193382 | SCV000524869 | likely benign | not specified | 2018-02-05 | 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 | RCV001080555 | SCV000563634 | likely benign | Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000715496 | SCV000846325 | likely benign | Seizures | 2017-06-29 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Insufficient or conflicting evidence;Subpopulation frequency in support of benign classification |
Institute for Genomic Medicine |
RCV000193382 | SCV000864308 | likely benign | not specified | 2017-04-28 | criteria provided, single submitter | clinical testing | BS1,BP4,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory). |
Athena Diagnostics Inc | RCV000471444 | SCV001144346 | benign | not provided | 2019-06-17 | criteria provided, single submitter | clinical testing | |
Bioinformatics Core, |
RCV000656028 | SCV000588304 | pathogenic | Rolandic epilepsy | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |