ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) (rs45540831)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243522 SCV000318992 benign Cardiovascular phenotype 2015-05-15 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
Athena Diagnostics Inc RCV000035839 SCV000614143 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513456 SCV000608694 uncertain significance not provided 2017-04-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513456 SCV000610328 likely benign not provided 2017-05-02 criteria provided, single submitter clinical testing
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758077 SCV000564486 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3153G>A (p.Ala1051=) variant in the MYH7 gene is 0.68% (490/66740) 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 RCV000758077 SCV000910660 benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202765 SCV000257657 benign Familial hypertrophic cardiomyopathy 1 2015-06-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035839 SCV000228109 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035839 SCV000151920 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.
Illumina Clinical Services Laboratory,Illumina RCV000226727 SCV000386070 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226727 SCV000284274 benign Hypertrophic cardiomyopathy 2018-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035839 SCV000059490 benign not specified 2011-06-08 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(rs45540831 ; MAF> 1%)
PreventionGenetics RCV000035839 SCV000303221 benign not specified criteria provided, single submitter clinical testing

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