ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)

gnomAD frequency: 0.00022  dbSNP: rs200835354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704890 SCV000236763 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Invitae RCV000467045 SCV000542727 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000184146 SCV000597652 uncertain significance not specified 2016-06-01 criteria provided, single submitter clinical testing

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