ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) (rs202187398)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000392444 SCV000336228 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Invitae RCV000549205 SCV000643928 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-03-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618447 SCV000735758 likely benign Cardiovascular phenotype 2020-01-17 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
GeneDx RCV000392444 SCV001771981 likely benign not provided 2019-09-12 criteria provided, single submitter clinical testing

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