ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) (rs35112591)

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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 RCV000247495 SCV000317433 benign Cardiovascular phenotype 2013-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714018 SCV000844681 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
GeneDx RCV000040164 SCV000169239 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 RCV000040164 SCV000153249 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322158 SCV000423625 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379178 SCV000423626 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268323 SCV000423627 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325495 SCV000423628 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382458 SCV000423629 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290536 SCV000423630 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040164 SCV000063855 benign not specified 2012-04-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000040164 SCV000315474 benign not specified criteria provided, single submitter clinical testing

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