ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) (rs55977045)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040873 SCV000064564 benign not specified 2012-01-03 criteria provided, single submitter clinical testing Glu30297Glu in exon 301 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.7% (115/6648) of E uropean American chromosomes and 0.5% (14/3098) of African American chromosomes from a broad, though clinically unspecified population (NHLBI Exome Sequencing P roject; http://evs.gs.washington.edu/EVS; rs55977045).
Genetic Services Laboratory, University of Chicago RCV000040873 SCV000153412 benign not specified 2013-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000040873 SCV000169447 benign not specified 2013-04-27 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.
Invitae RCV000203917 SCV000261584 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040873 SCV000315615 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000254322 SCV000318359 benign Cardiovascular phenotype 2013-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307764 SCV000420433 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362478 SCV000420434 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405322 SCV000420435 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313346 SCV000420436 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368001 SCV000420437 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273359 SCV000420438 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756836 SCV000884769 benign not provided 2017-05-24 criteria provided, single submitter clinical testing

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