ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86025G>A (p.Pro28675=) (rs369528150)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723788 SCV000203679 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV001085457 SCV000555530 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000154041 SCV000719651 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.
Ambry Genetics RCV000617188 SCV000736599 likely benign Cardiovascular phenotype 2016-05-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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