ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) (rs144420313)

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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 RCV000620748 SCV000735971 likely benign Cardiovascular phenotype 2017-07-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758072 SCV000564481 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.3918C>T (p.Leu1306=) variant in the MYH7 gene is 0.55% (60/8654) of East 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 RCV000758072 SCV000903371 benign Cardiomyopathy 2018-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000035873 SCV000170529 benign not specified 2013-10-29 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.
Illumina Clinical Services Laboratory,Illumina RCV000273864 SCV000386016 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229965 SCV000386017 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355658 SCV000386018 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263139 SCV000386019 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316030 SCV000386020 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372879 SCV000386021 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229965 SCV000284278 benign Hypertrophic cardiomyopathy 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035873 SCV000059524 likely benign not specified 2010-07-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035873 SCV000303230 benign not specified criteria provided, single submitter clinical testing

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