ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) (rs377599569)

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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 RCV000154884 SCV000204566 uncertain significance not specified 2014-06-26 criteria provided, single submitter clinical testing The Arg29980Cys variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/3916 African American chromosom es by the NHLBI Exome Sequencing Project (, dbS NP rs377599569). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Arg29980Cys variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726736 SCV000702582 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000726736 SCV000728198 likely benign not provided 2019-08-09 criteria provided, single submitter clinical testing
Invitae RCV000643170 SCV000764857 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-18 criteria provided, single submitter clinical testing

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