ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) (rs61737803)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712359 SCV000842833 likely benign not provided 2018-01-26 criteria provided, single submitter clinical testing
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758037 SCV000564479 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.4452C>T (p.Leu1484=) variant in the MYH7 gene is 0.74% (92/10406) 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).
Color RCV000758037 SCV000913770 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035913 SCV000229388 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
Invitae RCV000197055 SCV000252663 benign Hypertrophic cardiomyopathy 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035913 SCV000059564 benign not specified 2012-03-02 criteria provided, single submitter clinical testing Leu1484Leu in exon 32 of MYH7: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (27/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs61737803).
PreventionGenetics RCV000035913 SCV000303238 benign not specified criteria provided, single submitter clinical testing

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