ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) (rs3729823)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000035914 SCV000604364 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254102 SCV000317769 benign Cardiovascular phenotype 2015-07-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712360 SCV000842834 benign not provided 2018-03-23 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000172762 SCV000051574 benign Hypertrophic cardiomyopathy 2013-06-24 criteria provided, single submitter research
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758034 SCV000564464 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.4472C>G (p.Ser1491Cys) variant in the MYH7 gene is 0.98% (698/66740) 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 RCV000758034 SCV000902639 benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203136 SCV000257659 benign Familial hypertrophic cardiomyopathy 1 2015-04-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035914 SCV000110307 benign not specified 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000035914 SCV000170536 benign not specified 2012-04-17 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.
GeneReviews RCV000192197 SCV000223102 benign Myopathy, distal, 1 2015-03-12 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000035914 SCV000151922 benign not specified 2014-08-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331016 SCV000385954 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000172762 SCV000385955 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000172762 SCV000262237 benign Hypertrophic cardiomyopathy 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035914 SCV000059565 benign not specified 2016-01-07 criteria provided, single submitter clinical testing p.Ser1491Cys in exon 31 of MYH7: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (698/66740) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs3729823).
PreventionGenetics RCV000035914 SCV000303239 benign not specified criteria provided, single submitter clinical testing

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