ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.91981+4T>C (rs373514079)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727795 SCV000855201 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000040841 SCV000515183 benign not specified 2015-05-21 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 RCV000537275 SCV000643967 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-07 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415631 SCV000493817 uncertain significance Dilated cardiomyopathy 1G 2016-04-19 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415660 SCV000493818 uncertain significance Familial hypertrophic cardiomyopathy 9 2016-04-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040841 SCV000064532 uncertain significance not specified 2015-02-06 criteria provided, single submitter clinical testing The c.89200+4T>C variant in TTN has been identified by our laboratory in 1 adult with HCM and has also been identified in 6/11510 Latino chromosomes and 10/6542 6 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs373514079). This variant is located in the 5' splice r egion and computational tools do not suggest an impact to splicing. However, thi s information is not predictive enough to rule out pathogenicity. In summary, th e clinical significance of the c.89200+4T>C variant is uncertain.

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