ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) (rs744426)

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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 RCV000252215 SCV000317497 benign Cardiovascular phenotype 2013-01-16 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040599 SCV000051715 benign not specified 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040599 SCV000114434 benign not specified 2013-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000040599 SCV000169359 benign not specified 2012-11-07 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.
Genetic Services Laboratory, University of Chicago RCV000040599 SCV000153342 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304746 SCV000421807 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353185 SCV000421808 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260597 SCV000421809 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299370 SCV000421810 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356518 SCV000421811 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273440 SCV000421812 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040599 SCV000064290 benign not specified 2011-12-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000040599 SCV000315550 benign not specified criteria provided, single submitter clinical testing

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