ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58433-16dup

dbSNP: rs758370659
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862438 SCV001002948 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-09 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701454 SCV001920776 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702853 SCV001932368 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702853 SCV001974527 likely benign not provided no assertion criteria provided clinical testing

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