ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) (rs2562836)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040043 SCV000063734 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040043 SCV000153220 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000040043 SCV000169652 benign not specified 2012-10-31 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 RCV000040043 SCV000232871 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040043 SCV000315440 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254452 SCV000317437 benign Cardiovascular phenotype 2013-01-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297288 SCV000424034 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361414 SCV000424035 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266637 SCV000424036 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303021 SCV000424037 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357928 SCV000424038 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272605 SCV000424039 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing

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