ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) (rs748912340)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723865 SCV000228668 uncertain significance not provided 2014-06-03 criteria provided, single submitter clinical testing
Invitae RCV000472861 SCV000542247 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000723865 SCV000714649 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723865 SCV000892598 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769886 SCV000901312 uncertain significance Cardiomyopathy 2015-12-18 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000176902 SCV001433121 likely benign not specified 2020-03-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000723865 SCV001740570 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000723865 SCV001798058 likely benign not provided no assertion criteria provided clinical testing

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