ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53185C>T (p.Leu17729=) (rs767559716)

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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 RCV000349965 SCV000339536 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
Invitae RCV000349965 SCV000643337 likely benign not provided 2018-02-19 criteria provided, single submitter clinical testing
Invitae RCV001421943 SCV001624475 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-25 criteria provided, single submitter clinical testing

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