ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54360T>C (p.Thr18120=) (rs749248039)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247239 SCV000318678 likely benign Cardiovascular phenotype 2013-06-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591291 SCV000706205 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
Invitae RCV001080048 SCV001012066 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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