ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80168G>A (p.Arg26723His)

gnomAD frequency: 0.00005  dbSNP: rs371615296
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643494 SCV000765181 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733576 SCV000861655 uncertain significance not provided 2018-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493015 SCV002787890 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 2021-08-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000733576 SCV003824960 uncertain significance not provided 2023-10-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150314 SCV003838547 uncertain significance Cardiomyopathy 2021-07-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000733576 SCV001744138 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000733576 SCV001920065 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000733576 SCV001932957 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000733576 SCV001955245 uncertain significance not provided no assertion criteria provided clinical testing

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