ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85846C>T (p.Arg28616Trp)

gnomAD frequency: 0.00002  dbSNP: rs754025981
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518072 SCV000616162 uncertain significance not specified 2017-05-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476047 SCV002791148 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 2021-09-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001796092 SCV003825415 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001796092 SCV002034951 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796092 SCV002037937 uncertain significance not provided no assertion criteria provided clinical testing

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