ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.975C>T (p.Asp325=) (rs2231124)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245142 SCV000317965 benign Cardiovascular phenotype 2015-06-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712365 SCV000842839 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758066 SCV000564500 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.975C>T (p.Asp325=) variant in the MYH7 gene is 2.82% (1920/65662) 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 RCV000758066 SCV000902596 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000036014 SCV000151929 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 RCV000352619 SCV000386281 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398461 SCV000386282 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299162 SCV000386283 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356325 SCV000386284 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263878 SCV000386285 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302665 SCV000386286 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000398461 SCV000557971 benign Hypertrophic cardiomyopathy 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036014 SCV000059666 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000036014 SCV000303260 benign not specified criteria provided, single submitter clinical testing

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