ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) (rs2562831)

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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 RCV000039984 SCV000063675 benign not specified 2011-09-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039984 SCV000114348 benign not specified 2014-11-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039984 SCV000153203 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000039984 SCV000169626 benign not specified 2012-11-01 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 RCV000039984 SCV000315425 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254037 SCV000317589 benign Cardiovascular phenotype 2012-08-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325238 SCV000424226 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365884 SCV000424227 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271518 SCV000424228 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331319 SCV000424229 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385735 SCV000424230 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296181 SCV000424231 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing

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