ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) (rs191968963)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155842 SCV000205553 uncertain significance not specified 2014-03-21 criteria provided, single submitter clinical testing The Met4269Thr variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/196 Iberian chromosomes by the 1 000 Genomes Project (dbSNP 191968963). Computational prediction tools suggest th at this variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. Additional information is needed to full y assess the clinical significance of the Met4269Thr variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732240 SCV000860164 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000732240 SCV000981041 likely benign not provided 2020-07-08 criteria provided, single submitter clinical testing
Invitae RCV001085994 SCV001002291 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000732240 SCV001153096 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000732240 SCV001799841 uncertain significance not provided no assertion criteria provided clinical testing

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