ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) (rs199793620)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593381 SCV000701347 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV001082337 SCV000765548 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000593381 SCV000970808 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001662639 SCV001880238 likely benign not specified 2021-03-22 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678758 SCV000804937 uncertain significance Left ventricular hypertrophy 2015-11-04 no assertion criteria provided clinical testing

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