ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2162+4G>A (rs145738465)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621043 SCV000740037 likely benign Cardiovascular phenotype 2017-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000712356 SCV000842830 benign not provided 2018-01-26 criteria provided, single submitter clinical testing
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758064 SCV000564423 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.2162+4G>A variant in the MYH7 gene is 0.75% (93/10406) of African 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). Additionally, computational prediction tools and conservation analysis suggest that this variant may not impact the protein (BP4).
Color RCV000758064 SCV000913768 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035769 SCV000226726 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000035769 SCV000864319 likely benign not specified 2017-10-04 criteria provided, single submitter clinical testing BS1, BP4, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000196579 SCV000252660 benign Hypertrophic cardiomyopathy 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035769 SCV000059420 likely benign not specified 2015-03-21 criteria provided, single submitter clinical testing c.2162+4G>A in intron 19 of MYH7: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 0.9% (93/10406) of African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145738465). Thi s cohort included 2 individuals who carried this variant in the homozygous state .
PreventionGenetics RCV000035769 SCV000303216 likely benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.