ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)

gnomAD frequency: 0.00014  dbSNP: rs376823283
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468492 SCV000542976 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000517916 SCV000616036 uncertain significance not specified 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV001572975 SCV000725565 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852886 SCV000995620 likely benign Hypertrophic cardiomyopathy 2018-08-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001572975 SCV003827419 uncertain significance not provided 2020-07-09 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572975 SCV001798168 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001572975 SCV001923383 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001572975 SCV001957198 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572975 SCV001971417 uncertain significance not provided no assertion criteria provided clinical testing

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