ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104298T>C (p.Ala34766=) (rs751788327)

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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 RCV000725693 SCV000701083 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000725693 SCV000730444 likely benign not provided 2019-06-04 criteria provided, single submitter clinical testing
Invitae RCV001086141 SCV001004369 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-17 criteria provided, single submitter clinical testing

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