ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) (rs376037252)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726237 SCV000701312 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391590 SCV000421411 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300600 SCV000421412 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357768 SCV000421413 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265407 SCV000421414 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304128 SCV000421415 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361272 SCV000421416 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040679 SCV000064370 uncertain significance not specified 2014-06-19 criteria provided, single submitter clinical testing The Ile24839Thr variant in TTN has been identified by our laboratory in 1 adult with DCM. It was also identified in 1/8190 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs3760 37252). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. Additional information i s needed to fully assess the clinical significance of the Ile24839Thr variant.

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