ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly) (rs148631577)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244623 SCV000318580 likely benign Cardiovascular phenotype 2020-05-29 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001087667 SCV000642881 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725542 SCV000701013 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000725542 SCV000714293 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing

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