ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48960T>C (p.Asp16320=) (rs1057523898)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727329 SCV000707595 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing
GeneDx RCV000424634 SCV000533750 likely benign not specified 2016-11-16 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 RCV000643900 SCV000765587 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-27 criteria provided, single submitter clinical testing

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