ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) (rs201693851)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726175 SCV000237388 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30847666)
Invitae RCV000559556 SCV000643485 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726175 SCV000701283 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000726175 SCV001920932 uncertain significance not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000726175 SCV001957050 uncertain significance not provided no assertion criteria provided clinical testing

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