ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2514G>A (p.Pro838=) (rs45560638)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758022 SCV000564491 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.2514G>A (p.Pro838=) variant in the MYH7 gene is 0.18% (27/10404) 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 RCV000035800 SCV000059451 benign not specified 2016-04-20 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035800 SCV000335083 likely benign not specified 2015-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000035800 SCV000513804 likely benign not specified 2017-07-25 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.
Invitae RCV000459003 SCV000557965 benign Hypertrophic cardiomyopathy 2020-12-03 criteria provided, single submitter clinical testing
Color Health, Inc RCV000758022 SCV000913796 benign Cardiomyopathy 2018-10-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286675 SCV001473286 likely benign none provided 2020-01-16 criteria provided, single submitter clinical testing

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