ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) (rs55801134)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249212 SCV000317479 benign Cardiovascular phenotype 2013-01-16 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040560 SCV000051756 benign not specified 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040560 SCV000707438 benign not specified 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000040560 SCV000169349 benign not specified 2014-01-03 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 RCV000040560 SCV000153335 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000342774 SCV000422011 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405582 SCV000422012 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303193 SCV000422013 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346389 SCV000422014 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397114 SCV000422015 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310303 SCV000422016 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229769 SCV000286811 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040560 SCV000064251 benign not specified 2012-06-11 criteria provided, single submitter clinical testing Gly20998Arg in Exon 275 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.5% (102/6822) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs55801134).
PreventionGenetics RCV000040560 SCV000315544 benign not specified criteria provided, single submitter clinical testing

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