ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)

gnomAD frequency: 0.00006  dbSNP: rs754885396
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867034 SCV001008220 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV001570921 SCV001795294 likely benign not provided 2021-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495268 SCV002803679 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 2021-08-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001570921 SCV003825488 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330976 SCV004038610 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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