ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) (rs12993099)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245760 SCV000317819 benign Cardiovascular phenotype 2012-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000039877 SCV000169590 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.
Genetic Services Laboratory, University of Chicago RCV000039877 SCV000153172 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308776 SCV000424658 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358960 SCV000424659 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402114 SCV000424660 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305293 SCV000424661 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360019 SCV000424662 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260559 SCV000424663 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039877 SCV000063568 benign not specified 2012-04-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000039877 SCV000315405 benign not specified criteria provided, single submitter clinical testing

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