ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)

gnomAD frequency: 0.00022  dbSNP: rs200018866
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533668 SCV000642735 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000728768 SCV000729096 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Eurofins Ntd Llc (ga) RCV000728768 SCV000856381 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491031 SCV002779829 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 2021-09-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000728768 SCV003819194 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing

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