ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44790G>A (p.Lys14930=) (rs886042667)

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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 RCV000309362 SCV000335847 uncertain significance not provided 2015-10-16 criteria provided, single submitter clinical testing
Invitae RCV000309362 SCV001077489 likely benign not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV001457824 SCV001661630 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-03-22 criteria provided, single submitter clinical testing

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