ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24453C>T (p.Leu8151=)

gnomAD frequency: 0.00001  dbSNP: rs772386098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721396 SCV000532498 likely benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Invitae RCV000529800 SCV000642853 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506072 SCV002808453 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 2021-07-26 criteria provided, single submitter clinical testing

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