ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40222+6T>C

gnomAD frequency: 0.00001  dbSNP: rs1182693405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643018 SCV000764705 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493006 SCV002776899 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 2021-10-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001729670 SCV001979163 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001729670 SCV001979698 likely benign not provided no assertion criteria provided clinical testing

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