ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85380A>G (p.Ile28460Met)

gnomAD frequency: 0.00004  dbSNP: rs768545532
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002488490 SCV002779786 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 2021-09-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001730364 SCV001978930 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001730364 SCV001979360 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001730364 SCV002035948 uncertain significance not provided no assertion criteria provided clinical testing

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