Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250457 | SCV000317141 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000250457 | SCV000341667 | benign | not specified | 2016-05-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000278788 | SCV000369915 | benign | Autosomal recessive DOPA responsive dystonia | 2018-01-12 | 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 | RCV000710269 | SCV000677518 | benign | not provided | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000278788 | SCV000745017 | benign | Autosomal recessive DOPA responsive dystonia | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000278788 | SCV001726102 | benign | Autosomal recessive DOPA responsive dystonia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000278788 | SCV001754947 | benign | Autosomal recessive DOPA responsive dystonia | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710269 | SCV001884234 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000250457 | SCV005091662 | benign | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 42% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 39. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV000710269 | SCV005321294 | benign | not provided | criteria provided, single submitter | not provided | ||
Genome Diagnostics Laboratory, |
RCV000278788 | SCV000745783 | benign | Autosomal recessive DOPA responsive dystonia | 2015-02-07 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000278788 | SCV001463811 | benign | Autosomal recessive DOPA responsive dystonia | 2020-09-16 | no assertion criteria provided | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000250457 | SCV001951340 | benign | not specified | no assertion criteria provided | clinical testing |