ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39895+16del

gnomAD frequency: 0.00003  dbSNP: rs761838184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707841 SCV000732528 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066877 SCV002414631 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491304 SCV002796058 likely benign 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 2021-10-18 criteria provided, single submitter clinical testing

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