ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85768C>A (p.Arg28590=)

gnomAD frequency: 0.00001  dbSNP: rs748689777
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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 RCV000867361 SCV001008576 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-05-23 criteria provided, single submitter clinical testing
GeneDx RCV001664503 SCV001872482 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495273 SCV002803026 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 2021-07-07 criteria provided, single submitter clinical testing

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