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, http://exac.broadinstitute.org). 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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