ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) (rs1001238)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242660 SCV000317635 benign Cardiovascular phenotype 2013-01-16 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040380 SCV000051640 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000040380 SCV000169299 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 RCV000040380 SCV000153304 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287513 SCV000422737 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344810 SCV000422738 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395064 SCV000422739 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295893 SCV000422740 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348516 SCV000422741 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395083 SCV000422742 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040380 SCV000064071 benign not specified 2011-09-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000040380 SCV000315516 benign not specified criteria provided, single submitter clinical testing

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