ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) (rs141856116)

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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 RCV000040041 SCV000051445 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040041 SCV000063732 benign not specified 2012-03-16 criteria provided, single submitter clinical testing Val7416Ile in exon 87 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 1.0% (30/3050) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs141856116). Val7416Ile in exon 87 of TTN (rs 141856116; allele frequency = 1.0%, 30/3050) **
Genetic Services Laboratory, University of Chicago RCV000118746 SCV000153219 likely benign not provided 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000040041 SCV000238369 benign not specified 2015-06-08 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 RCV000118746 SCV000286533 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040041 SCV000315439 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249830 SCV000318026 likely benign Cardiovascular phenotype 2012-12-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040041 SCV000333716 benign not specified 2015-08-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327425 SCV000424040 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382034 SCV000424041 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268699 SCV000424042 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333139 SCV000424043 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387897 SCV000424044 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293596 SCV000424045 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769050 SCV000900423 benign Cardiomyopathy 2017-07-11 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852887 SCV000995621 benign Cardiomyopathy; Ventricular tachycardia 2019-06-03 criteria provided, single submitter clinical testing

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