ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) (rs563969986)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619810 SCV000736818 benign Cardiovascular phenotype 2017-04-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000184664 SCV000701270 benign not specified 2017-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000184664 SCV000237352 likely benign not specified 2017-03-29 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.
Genetic Services Laboratory, University of Chicago RCV000184664 SCV000597691 uncertain significance not specified 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV000460043 SCV000555495 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing

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