ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70998A>G (p.Thr23666=) (rs767989384)

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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 RCV000245702 SCV000319001 likely benign Cardiovascular phenotype 2013-10-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000396572 SCV000344641 likely benign not specified 2016-09-17 criteria provided, single submitter clinical testing
Invitae RCV000470054 SCV000555107 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000396572 SCV000729332 benign not specified 2016-03-11 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.

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