ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) (rs369440319)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172657 SCV000054977 likely benign not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000461841 SCV000543007 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172657 SCV000701152 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000592228 SCV000726625 likely benign not specified 2018-01-19 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770004 SCV000901430 uncertain significance Cardiomyopathy 2016-06-21 criteria provided, single submitter clinical testing

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