ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1128C>T (p.Asp376=) (rs2231126)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758054 SCV000564496 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.1128C>T (p.Asp376=) variant in the MYH7 gene is 37.6% (4016/10404) 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 RCV000035699 SCV000059350 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000035699 SCV000151915 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035699 SCV000303206 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000253836 SCV000317543 benign Cardiovascular phenotype 2015-06-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401862 SCV000386239 benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302714 SCV000386240 benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359932 SCV000386241 benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393760 SCV000386242 benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306387 SCV000386243 benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363434 SCV000386244 benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000758054 SCV000910542 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Invitae RCV000860384 SCV001000423 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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