ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)

gnomAD frequency: 0.00013  dbSNP: rs997014833
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554897 SCV000643064 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483434 SCV002792272 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 2022-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579633 SCV004152463 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TTN: BP4
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579633 SCV001807954 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579633 SCV001973405 uncertain significance not provided no assertion criteria provided clinical testing

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