ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) (rs199620003)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157559 SCV000207305 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-11-12 no assertion criteria provided clinical testing
GeneDx RCV000184135 SCV000236752 likely benign not provided 2012-10-16 criteria provided, single submitter clinical testing The variant is found in DCM panel(s).
Invitae RCV000477233 SCV000542399 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-16 criteria provided, single submitter clinical testing

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