ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99990A>G (p.Lys33330=) (rs749702063)

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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 RCV000273229 SCV000345020 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
Invitae RCV000273229 SCV001009314 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV001451526 SCV001655156 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-08-08 criteria provided, single submitter clinical testing

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