ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) (rs3829747)

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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 RCV000040932 SCV000051740 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040932 SCV000064623 benign not specified 2012-03-08 criteria provided, single submitter clinical testing Arg32026His in exon 307 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 14.4% (970/6736) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs3829747).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040932 SCV000114508 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040932 SCV000153432 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000040932 SCV000169467 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 RCV000040932 SCV000315639 benign not specified 2016-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000241953 SCV000317492 benign Cardiovascular phenotype 2013-01-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348964 SCV000420139 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402767 SCV000420140 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309258 SCV000420141 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366156 SCV000420142 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396323 SCV000420143 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304387 SCV000420144 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing

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