ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) (rs12693164)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249655 SCV000317436 benign Cardiovascular phenotype 2013-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714000 SCV000844659 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040047 SCV000051676 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000040047 SCV000169656 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 RCV000040047 SCV000153224 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372474 SCV000424004 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280266 SCV000424005 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337709 SCV000424006 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376006 SCV000424007 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293270 SCV000424008 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350515 SCV000424009 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040047 SCV000063738 benign not specified 2011-12-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000040047 SCV000315444 benign not specified criteria provided, single submitter clinical testing

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