Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181726 | SCV000234029 | benign | not specified | 2011-07-10 | 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. |
Preventiongenetics, |
RCV000181726 | SCV000303112 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000245504 | SCV000317647 | benign | Cardiovascular phenotype | 2015-02-19 | 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. |
Illumina Laboratory Services, |
RCV001095280 | SCV000467519 | benign | Long QT syndrome 2 | 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. |
Laboratory for Molecular Medicine, |
RCV000181726 | SCV000711389 | benign | not specified | 2017-11-02 | criteria provided, single submitter | clinical testing | Leu564Leu in exon 7 of KCNH2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 87% (16383/18860) o f East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs1805121). |
Athena Diagnostics Inc | RCV000712073 | SCV000842487 | benign | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001842804 | SCV000902536 | benign | Cardiac arrhythmia | 2018-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000378634 | SCV001000275 | benign | Long QT syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001095280 | SCV001980881 | benign | Long QT syndrome 2 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000181726 | SCV001923867 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000181726 | SCV001953909 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000181726 | SCV001975036 | benign | not specified | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV000378634 | SCV003803662 | benign | Long QT syndrome | 2022-09-23 | no assertion criteria provided | clinical testing |