ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) (rs200866883)

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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 RCV000725143 SCV000334428 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000270267 SCV000714768 likely benign not specified 2018-03-02 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 RCV000527307 SCV000642787 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-16 criteria provided, single submitter clinical testing

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