ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) (rs45554236)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756393 SCV000884192 benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247600 SCV000318263 benign Cardiovascular phenotype 2015-11-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758052 SCV000564484 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3351G>A (p.Glu1117=) variant in the MYH7 gene is 0.34% (212/55890) 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 RCV000758052 SCV000910816 benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035850 SCV000335478 likely benign not specified 2015-09-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352657 SCV000386046 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385477 SCV000386047 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229445 SCV000386048 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336834 SCV000386049 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392592 SCV000386050 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297112 SCV000386051 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229445 SCV000284275 benign Hypertrophic cardiomyopathy 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035850 SCV000059501 benign not specified 2017-01-19 criteria provided, single submitter clinical testing p.Glu1117Glu in exon 27 of MYH7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.4% (212/55890) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs45554236).
PreventionGenetics RCV000035850 SCV000303223 benign not specified criteria provided, single submitter clinical testing

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