ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.11360del (p.Glu3787fs)

gnomAD frequency: 0.00001  dbSNP: rs1309605744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732094 SCV000860000 uncertain significance not provided 2018-03-08 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270078 SCV001448859 uncertain significance Motor delay 2019-07-29 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000732094 SCV002503005 uncertain significance not provided 2021-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499363 SCV002805609 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 2021-10-08 criteria provided, single submitter clinical testing

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