ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala) (rs186497293)

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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 RCV000242454 SCV000320091 likely benign Cardiovascular phenotype 2015-09-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598396 SCV000701180 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000598396 SCV000729349 likely benign not specified 2018-01-31 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 RCV000466950 SCV000555539 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-06 criteria provided, single submitter clinical testing

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