Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187670 | SCV000241267 | benign | not specified | 2017-01-11 | 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. |
EGL Genetic Diagnostics, |
RCV000723931 | SCV000331608 | uncertain significance | not provided | 2017-08-16 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000287434 | SCV000400138 | benign | Epilepsy, focal, with speech disorder and with or without mental retardation | 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. |
Genetic Services Laboratory, |
RCV000187670 | SCV000595064 | uncertain significance | not specified | 2015-12-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000187670 | SCV000613550 | likely benign | not specified | 2017-02-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000287434 | SCV000638250 | likely benign | Epilepsy, focal, with speech disorder and with or without mental retardation | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000623372 | SCV000740740 | likely benign | Inborn genetic diseases | 2016-05-23 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000287434 | SCV000743902 | likely benign | Epilepsy, focal, with speech disorder and with or without mental retardation | 2015-12-09 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000287434 | SCV000745335 | likely benign | Epilepsy, focal, with speech disorder and with or without mental retardation | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000719117 | SCV000849981 | benign | History of neurodevelopmental disorder | 2019-04-26 | criteria provided, single submitter | clinical testing | Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign) |
Diagnostic Laboratory, |
RCV000287434 | SCV000733559 | likely benign | Epilepsy, focal, with speech disorder and with or without mental retardation | no assertion criteria provided | clinical testing |