Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117928 | SCV000152204 | benign | not specified | 2013-04-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000117928 | SCV000312446 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000381132 | SCV000435388 | likely benign | Early Infantile Epileptic Encephalopathy, Autosomal Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000604714 | SCV000743120 | benign | Developmental and epileptic encephalopathy, 12 | 2014-10-10 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000712701 | SCV000843221 | benign | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312216 | SCV000846033 | benign | Inborn genetic diseases | 2016-01-08 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Labcorp Genetics |
RCV000604714 | SCV001730242 | benign | Developmental and epileptic encephalopathy, 12 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712701 | SCV001949368 | benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000604714 | SCV002030012 | benign | Developmental and epileptic encephalopathy, 12 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000117928 | SCV005087745 | benign | not specified | 2024-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 40% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 37. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000712701 | SCV005207314 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000604714 | SCV000734085 | benign | Developmental and epileptic encephalopathy, 12 | no assertion criteria provided | clinical testing |