ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57544+7dup (rs750881309)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222617 SCV000271041 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing c.49840+7_49840+8insA in intron 243 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus seq uence. It has been identified in 2/43244 European chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org).
Invitae RCV000456203 SCV000542528 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727760 SCV000855143 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000727760 SCV001869989 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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