ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)

gnomAD frequency: 0.00001  dbSNP: rs755082341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470249 SCV000543011 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489011 SCV002803916 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 2021-11-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139642 SCV003825626 uncertain significance not provided 2022-07-18 criteria provided, single submitter clinical testing

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