ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1605A>G (p.Glu535=) (rs2069543)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248043 SCV000317828 benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758062 SCV000564494 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.1605A>G (p.Glu535=) variant in the MYH7 gene is 10.63% (1162/10406) 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).
Color RCV000758062 SCV000910837 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035734 SCV000151916 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321950 SCV000386209 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378926 SCV000386210 benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286845 SCV000386211 benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344113 SCV000386212 benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382324 SCV000386213 benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290265 SCV000386214 benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000290265 SCV000557953 benign Hypertrophic cardiomyopathy 2017-08-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035734 SCV000059385 benign not specified 2010-07-08 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction. In additi on, this variant has been identified in 2.9% of the Black population (dbSNP:rs20 69543). In summary, this variant is highly likely to be benign.
PreventionGenetics RCV000035734 SCV000303211 benign not specified criteria provided, single submitter clinical testing

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