ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15040A>T (p.Thr5014Ser)

gnomAD frequency: 0.00001  dbSNP: rs143093473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471891 SCV000542842 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-06-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504034 SCV000597675 uncertain significance not specified 2015-12-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727402 SCV000708248 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing

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