ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) (rs367603302)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725162 SCV000237275 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000213905 SCV000272677 uncertain significance not specified 2015-04-23 criteria provided, single submitter clinical testing The p.Arg14767His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/9444 of African chromosomes b y the Exome Aggregation Consortium (ExAC,; dbSNP rs367603302). Computational prediction tools and conservation analysis suggest t hat this variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, the clinical significance o f the p.Arg14767His variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725162 SCV000334579 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
Invitae RCV001086306 SCV000764950 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-18 criteria provided, single submitter clinical testing

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