ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81647G>A (p.Arg27216His)

gnomAD frequency: 0.00005  dbSNP: rs371910831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554115 SCV000643751 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506349 SCV002813475 uncertain significance 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 2021-11-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139830 SCV003822273 uncertain significance not provided 2022-04-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486872 SCV004240126 likely benign Cardiomyopathy 2023-03-08 criteria provided, single submitter clinical testing

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