ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19426+7A>G

gnomAD frequency: 0.00001  dbSNP: rs756760290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001472875 SCV001677016 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481787 SCV002794915 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 2021-08-30 criteria provided, single submitter clinical testing

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