ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) (rs376823283)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468492 SCV000542976 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-12-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517916 SCV000616036 uncertain significance not specified 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000517916 SCV000725565 likely benign not specified 2017-12-04 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.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852886 SCV000995620 likely benign Hypertrophic cardiomyopathy 2018-08-22 criteria provided, single submitter clinical testing

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