ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) (rs375474669)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710276 SCV000203714 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000464514 SCV000542678 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710276 SCV000616075 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621883 SCV000737323 likely benign Cardiovascular phenotype 2019-12-11 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
GeneDx RCV000710276 SCV000980541 likely benign not provided 2018-03-29 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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