Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117932 | SCV000152208 | benign | not specified | 2013-04-25 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000117932 | SCV000203291 | benign | not specified | 2014-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000117932 | SCV000312451 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000398026 | SCV000435397 | benign | Early Infantile Epileptic Encephalopathy, Autosomal Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000601534 | SCV000743122 | benign | Developmental and epileptic encephalopathy, 12 | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000712704 | SCV000843224 | benign | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000601534 | SCV001725005 | benign | Developmental and epileptic encephalopathy, 12 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712704 | SCV001829909 | benign | not provided | 2020-11-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000601534 | SCV002030014 | benign | Developmental and epileptic encephalopathy, 12 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321596 | SCV002608129 | benign | Inborn genetic diseases | 2016-05-31 | 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. |
Unidad de Genómica Garrahan, |
RCV000117932 | SCV005087281 | 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 94% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 87. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000712704 | SCV005311780 | benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000601534 | SCV000734087 | benign | Developmental and epileptic encephalopathy, 12 | no assertion criteria provided | clinical testing |