ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) (rs3729830)

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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, RCV000758076 SCV000564473 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.5106G>A (p.Ala1702=) variant in the MYH7 gene is 22.43% (2414/10406) 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 RCV000035950 SCV000059601 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035950 SCV000151925 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035950 SCV000303247 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248510 SCV000317476 benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344972 SCV000385906 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405836 SCV000385907 benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309741 SCV000385908 benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000192199 SCV000385909 benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265247 SCV000385910 benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304358 SCV000385911 benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000758076 SCV000910532 benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000860382 SCV001000421 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneReviews RCV000192199 SCV000223104 benign Myopathy, distal, 1 2015-03-12 no assertion criteria provided literature only

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