ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)

gnomAD frequency: 0.00012  dbSNP: rs200395305
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533884 SCV000642845 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764344 SCV000895363 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 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001536507 SCV001753276 likely benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001536507 SCV004237381 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing

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