ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) (rs12693166)

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Total submissions: 13
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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 RCV000039968 SCV000051659 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039968 SCV000063659 benign not specified 2011-12-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039968 SCV000153198 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000039968 SCV000169621 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.
PreventionGenetics,PreventionGenetics RCV000039968 SCV000315421 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000253623 SCV000317443 benign Cardiovascular phenotype 2013-01-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330188 SCV000424292 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389416 SCV000424293 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295291 SCV000424294 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317518 SCV000424295 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372427 SCV000424296 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282599 SCV000424297 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713991 SCV000844647 benign not provided 2018-06-21 criteria provided, single submitter clinical testing

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