ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) (rs200378865)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620982 SCV000736126 likely benign Cardiovascular phenotype 2017-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040952 SCV000337692 benign not specified 2016-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000040952 SCV000237941 likely benign not specified 2017-08-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000259617 SCV000420043 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333536 SCV000420044 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369582 SCV000420045 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275138 SCV000420046 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330183 SCV000420047 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383536 SCV000420048 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228793 SCV000286407 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040952 SCV000064643 likely benign not specified 2015-06-05 criteria provided, single submitter clinical testing p.Arg32475Cys in exon 307 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.7% (68/9800) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200378865).

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