ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) (rs770742837)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622095 SCV000735388 uncertain significance Cardiovascular phenotype 2016-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725161 SCV000334575 uncertain significance not provided 2015-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000184181 SCV000236801 likely benign not specified 2012-08-21 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 RCV000553885 SCV000642539 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-03-12 criteria provided, single submitter clinical testing

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