ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)

gnomAD frequency: 0.00034  dbSNP: rs371580084
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233263 SCV000286606 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500772 SCV002789724 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001529493 SCV004152464 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529493 SCV001743043 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699078 SCV001918752 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529493 SCV001952100 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529493 SCV001972063 likely benign not provided no assertion criteria provided clinical testing

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