Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116919 | SCV000151006 | benign | not specified | 2013-04-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116919 | SCV000168290 | benign | not specified | 2014-01-20 | 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. |
Prevention |
RCV000116919 | SCV000307851 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000116919 | SCV000336566 | benign | not specified | 2015-10-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000354888 | SCV000384993 | benign | Autosomal dominant cerebellar ataxia | 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. |
Illumina Laboratory Services, |
RCV000315011 | SCV000384995 | benign | Charcot-Marie-Tooth disease axonal type 2O | 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. |
Laboratory for Molecular Medicine, |
RCV000116919 | SCV000539040 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Ambry Genetics | RCV002312096 | SCV000846075 | 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: 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. |
Molecular Genetics Laboratory, |
RCV001174067 | SCV001337187 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000315011 | SCV001717418 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000315011 | SCV001875794 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001657719 | SCV001875795 | benign | Intellectual disability, autosomal dominant 13 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001657718 | SCV001875796 | benign | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000116919 | SCV001923033 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000116919 | SCV001953237 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000116919 | SCV001970734 | benign | not specified | no assertion criteria provided | clinical testing |