ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) (rs574005462)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620286 SCV000740145 uncertain significance Cardiovascular phenotype 2017-05-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172045 SCV000054826 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758061 SCV000564465 benign Cardiomyopathy 2016-12-16 reviewed by expert panel curation The filtering allele frequency of the c.3770A>G (p.Asn1257Ser) variant in the MYH7 gene is 0.17% (37/16512) of South Asian 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 RCV000758061 SCV000904479 likely benign Cardiomyopathy 2018-10-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287650 SCV000386028 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344947 SCV000386029 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391052 SCV000386030 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311864 SCV000386031 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368928 SCV000386032 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391076 SCV000386033 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000391052 SCV000557977 likely benign Hypertrophic cardiomyopathy 2017-11-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000168894 SCV000272045 uncertain significance not specified 2016-09-19 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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