ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys) (rs144025230)

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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 RCV000214281 SCV000272614 uncertain significance not specified 2015-05-27 criteria provided, single submitter clinical testing The p.Glu8373Lys variant in TTN has not been previously reported in individuals with cardiomyopathy but has been indentified in 5/66676 European chromosomes by the Exome Aggregation Consortium (ExAC, Computa tional prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance o f the p.Glu8373Lys variant is uncertain.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769899 SCV000901325 uncertain significance Cardiomyopathy 2017-09-19 criteria provided, single submitter clinical testing
GeneDx RCV000840343 SCV000982268 likely benign not provided 2019-05-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000840343 SCV001153012 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing

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