ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16581C>T (p.Val5527=) (rs373179717)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585507 SCV000515095 likely benign not provided 2020-06-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585507 SCV000693028 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000585507 SCV000701848 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV001086968 SCV001010097 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-07 criteria provided, single submitter clinical testing

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