ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) (rs146181116)

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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 RCV000040746 SCV000051450 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040746 SCV000064437 likely benign not specified 2017-07-21 criteria provided, single submitter clinical testing p.Ser26897Phe in exon 280 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.6% (163/25786) of Finnish chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs146181116)
GeneDx RCV000040746 SCV000237698 likely benign not specified 2017-09-12 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.
PreventionGenetics,PreventionGenetics RCV000040746 SCV000315585 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242549 SCV000319155 likely benign Cardiovascular phenotype 2013-11-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040746 SCV000332819 likely benign not specified 2015-07-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266709 SCV000421039 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297597 SCV000421040 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354841 SCV000421041 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262196 SCV000421042 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319678 SCV000421043 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367586 SCV000421044 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471049 SCV000555585 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040746 SCV000597638 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768870 SCV000900243 likely benign Cardiomyopathy 2017-06-08 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852799 SCV000995526 benign Arrhythmogenic right ventricular cardiomyopathy; Hypertrophic cardiomyopathy 2019-04-01 criteria provided, single submitter clinical testing

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