ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=) (rs375625664)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726013 SCV000341230 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000726013 SCV000522934 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Invitae RCV001086233 SCV001001666 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726013 SCV001152594 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000313155 SCV001922617 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726013 SCV001926852 likely benign not provided no assertion criteria provided clinical testing

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