Total submissions: 21
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036272 | SCV000059924 | benign | not specified | 2007-12-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000036272 | SCV000303831 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000245593 | SCV000317836 | benign | Cardiovascular phenotype | 2015-07-08 | 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. |
Illumina Laboratory Services, |
RCV000373724 | SCV000414761 | likely benign | Dilated Cardiomyopathy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000279200 | SCV000414762 | likely benign | Familial restrictive cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000320180 | SCV000414763 | likely benign | Hypertrophic cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000374641 | SCV000414764 | likely benign | Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000320180 | SCV000562157 | benign | Hypertrophic cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771136 | SCV000902923 | benign | Cardiomyopathy | 2018-03-16 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001129995 | SCV001289553 | likely benign | Dilated cardiomyopathy 2A | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV001129996 | SCV001289555 | benign | Hypertrophic cardiomyopathy 7 | 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, |
RCV001129997 | SCV001289556 | benign | Cardiomyopathy, familial restrictive, 1 | 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. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000036272 | SCV001433304 | benign | not specified | 2019-07-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705658 | SCV001862298 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000320180 | SCV004821883 | benign | Hypertrophic cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001705658 | SCV005206037 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000036272 | SCV001917172 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000036272 | SCV001930694 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000036272 | SCV001958761 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000036272 | SCV001974348 | benign | not specified | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV000320180 | SCV003803058 | benign | Hypertrophic cardiomyopathy | 2022-10-10 | no assertion criteria provided | clinical testing |