Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758044 | SCV000564478 | benign | Cardiomyopathy | 2016-12-15 | reviewed by expert panel | curation | The filtering allele frequency of the c.4566T>C (p.Thr1522=) variant in the MYH7 gene is 2.98% (376/11574) of Latino chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372). |
Laboratory for Molecular Medicine, |
RCV000035921 | SCV000059572 | benign | not specified | 2008-03-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000035921 | SCV000303241 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000253223 | SCV000318811 | benign | Cardiovascular phenotype | 2015-06-19 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Illumina Clinical Services Laboratory, |
RCV000310680 | SCV000385948 | likely benign | Dilated Cardiomyopathy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000365328 | SCV000385949 | benign | Myosin storage myopathy | 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. |
Illumina Clinical Services Laboratory, |
RCV000192198 | SCV000385950 | benign | Myopathy, distal, 1 | 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. |
Illumina Clinical Services Laboratory, |
RCV001094148 | SCV000385951 | likely benign | Familial hypertrophic cardiomyopathy 1 | 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 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 Clinical Services Laboratory, |
RCV000370506 | SCV000385952 | likely benign | Left ventricular noncompaction cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000306450 | SCV000557976 | benign | Hypertrophic cardiomyopathy | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Color | RCV000758044 | SCV000902628 | benign | Cardiomyopathy | 2018-03-05 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000035921 | SCV001159172 | benign | not specified | 2019-01-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000035921 | SCV000151923 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Gene |
RCV000192198 | SCV000223103 | benign | Myopathy, distal, 1 | 2015-03-12 | no assertion criteria provided | literature only |