ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1767C>T (p.Asn589=) (rs3729816)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758068 SCV000564493 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.1767C>T (p.Asn589=) variant in the MYH7 gene is 3.71% (419/10406) 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).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035746 SCV000059397 benign not specified 2011-06-09 criteria provided, single submitter clinical testing This variant is considered to be benign because it does not change an amino acid and is frequent in the general population (rs3729816; MAF>1%)
GeneDx RCV000035746 SCV000170560 benign not specified 2011-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000206182 SCV000261789 benign Hypertrophic cardiomyopathy 2018-01-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035746 SCV000303212 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249470 SCV000318438 benign Cardiovascular phenotype 2015-09-09 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
Illumina Clinical Services Laboratory,Illumina RCV000275625 SCV000386185 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330727 SCV000386186 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389702 SCV000386187 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276807 SCV000386188 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317838 SCV000386189 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206182 SCV000386190 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000758068 SCV000911139 benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035746 SCV000151917 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.

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