ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3337-4dup (rs45504498)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251461 SCV000317889 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251461 SCV000735051 benign Cardiovascular phenotype 2015-03-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000143924 SCV000188801 likely benign Paroxysmal familial ventricular fibrillation 1 2013-10-17 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000758032 SCV000900845 benign Cardiomyopathy 2016-03-22 criteria provided, single submitter clinical testing
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758032 SCV000564469 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3337-3dupC variant in the MYH7 gene is 0.23% (146/54400) of European 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).
Color RCV000758032 SCV000902533 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202937 SCV000257658 likely benign Familial hypertrophic cardiomyopathy 1 2015-07-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035849 SCV000228299 benign not specified 2014-10-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035849 SCV000248115 benign not specified 2014-01-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335651 SCV000386052 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392584 SCV000386053 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305277 SCV000386054 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000198751 SCV000386055 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265461 SCV000386056 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308973 SCV000386057 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000035849 SCV000864349 benign not specified 2017-05-12 criteria provided, single submitter clinical testing BA1,BP6; This alteration has an allele frequency that is greater than 5% healthy populations (ExAC/gnomAD), and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Invitae RCV000198751 SCV000252661 benign Hypertrophic cardiomyopathy 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035849 SCV000059500 benign not specified 2006-10-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035849 SCV000303222 likely benign not specified criteria provided, single submitter clinical testing

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