ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) (rs376820301)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000259119 SCV000237647 likely benign not specified 2017-06-27 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 RCV000487528 SCV000286867 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242513 SCV000318050 uncertain significance Cardiovascular phenotype 2013-01-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487528 SCV000333174 uncertain significance not provided 2015-07-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366970 SCV000421267 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274523 SCV000421268 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299241 SCV000421269 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356458 SCV000421270 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259353 SCV000421271 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317203 SCV000421272 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487528 SCV000575274 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000356458 SCV000995531 likely benign Hypertrophic cardiomyopathy 2018-12-24 criteria provided, single submitter clinical testing

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