ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys)

gnomAD frequency: 0.00001  dbSNP: rs752756889
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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 RCV000558025 SCV000643946 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-08 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002464251 SCV002759348 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-12-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529108 SCV001742010 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001529108 SCV001917954 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529108 SCV001973735 uncertain significance not provided no assertion criteria provided clinical testing

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