ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) (rs372543652)

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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 RCV000723926 SCV000203687 uncertain significance not provided 2014-04-23 criteria provided, single submitter clinical testing
GeneDx RCV000154049 SCV000515723 benign not specified 2016-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001080765 SCV001004586 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723926 SCV001152743 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154049 SCV001431906 likely benign not specified 2020-08-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000723926 SCV001742180 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000154049 SCV001923280 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000723926 SCV001932076 likely benign not provided no assertion criteria provided clinical testing

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