ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) (rs72648927)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000039865 SCV000051654 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039865 SCV000063556 benign not specified 2015-08-21 criteria provided, single submitter clinical testing p.Pro3751Arg in exon 48 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 3% (165/4956) of Finnish chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs72648927).
GeneDx RCV000039865 SCV000169586 benign not specified 2013-10-02 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039865 SCV000203745 benign not specified 2013-12-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039865 SCV000315401 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245664 SCV000318340 benign Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406380 SCV000424694 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279816 SCV000424695 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337760 SCV000424696 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395600 SCV000424697 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311934 SCV000424698 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350497 SCV000424699 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462142 SCV000555627 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039865 SCV000605484 benign not specified 2017-06-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769083 SCV000900456 benign Cardiomyopathy 2015-11-30 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852914 SCV000995655 likely benign Heart failure 2017-03-14 criteria provided, single submitter clinical testing

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