ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) (rs201694149)

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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 RCV000620920 SCV000735470 uncertain significance Cardiovascular phenotype 2016-07-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Ambry Genetics RCV000622593 SCV000743041 uncertain significance Inborn genetic diseases 2017-11-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595166 SCV000703172 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing
Invitae RCV000474091 SCV000542450 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-03 criteria provided, single submitter clinical testing

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