ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) (rs766756026)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723868 SCV000225967 uncertain significance not provided 2014-05-21 criteria provided, single submitter clinical testing
Invitae RCV000473326 SCV000542622 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000174635 SCV000571803 likely benign not specified 2018-01-17 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723868 SCV000892603 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770063 SCV000901489 uncertain significance Cardiomyopathy 2015-12-18 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000174635 SCV001433120 likely benign not specified 2020-03-01 criteria provided, single submitter clinical testing

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