ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84633T>C (p.Asp28211=)

gnomAD frequency: 0.00002  dbSNP: rs1211159517
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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 RCV002143363 SCV002455897 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505804 SCV002810677 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 2021-08-25 criteria provided, single submitter clinical testing

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