ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)

gnomAD frequency: 0.00001  dbSNP: rs532818379
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503192 SCV000597686 uncertain significance not specified 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV000553043 SCV000643811 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732209 SCV000860132 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000732209 SCV001765110 likely benign not provided 2020-01-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000732209 SCV002541926 uncertain significance not provided 2021-09-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000732209 SCV003822182 uncertain significance not provided 2019-09-13 criteria provided, single submitter clinical testing

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