Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116434 | SCV000150359 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000116434 | SCV000313951 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000299686 | SCV000351387 | benign | Kufor-Rakeb syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Athena Diagnostics | RCV000675900 | SCV000840993 | benign | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312026 | SCV000845994 | 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 |
RCV001511877 | SCV001719192 | benign | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000299686 | SCV001775402 | benign | Kufor-Rakeb syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001554186 | SCV001775403 | benign | Autosomal recessive spastic paraplegia type 78 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675900 | SCV001835951 | benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000116434 | SCV005087434 | 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 71% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 66. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000675900 | SCV005285493 | benign | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV000675900 | SCV000801627 | benign | not provided | 2015-10-19 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000116434 | SCV001809075 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000116434 | SCV001951174 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000116434 | SCV001975234 | benign | not specified | no assertion criteria provided | clinical testing |