ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) (rs375347596)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041103 SCV000064794 benign not specified 2012-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000041103 SCV000236728 benign not specified 2014-07-08 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 RCV000242353 SCV000320094 likely benign Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041103 SCV000333896 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing
Invitae RCV000469701 SCV000555233 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000041103 SCV000615991 benign not specified 2016-10-28 criteria provided, single submitter clinical testing

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