ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.40634-10T>A

gnomAD frequency: 0.00021  dbSNP: rs375097334
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540406 SCV000643123 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001722491 SCV000719397 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497140 SCV002805391 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 2021-10-20 criteria provided, single submitter clinical testing

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