ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) (rs150430592)

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Total submissions: 14
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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 RCV000082445 SCV000051493 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040770 SCV000064461 benign not specified 2015-02-25 criteria provided, single submitter clinical testing p.Cys27708Gly in exon 284 of TTN: This variant is not expected to have clinical significance because it has been identified in 2.3% (370/16384) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs150430592).
Genetic Services Laboratory, University of Chicago RCV000082445 SCV000153383 uncertain significance not provided 2014-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000040770 SCV000237735 benign not specified 2016-02-08 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 RCV000082445 SCV000286906 benign not provided 2019-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040770 SCV000334907 benign not specified 2015-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327591 SCV000420943 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376846 SCV000420944 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286969 SCV000420945 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342088 SCV000420946 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373393 SCV000420947 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278620 SCV000420948 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618823 SCV000735446 benign Cardiovascular phenotype 2016-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852794 SCV000995520 benign Dilated cardiomyopathy 2017-02-28 criteria provided, single submitter clinical testing

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