ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)

gnomAD frequency: 0.00001  dbSNP: rs398124455
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082427 SCV000114431 uncertain significance not provided 2013-09-04 criteria provided, single submitter clinical testing
Invitae RCV001087441 SCV000765075 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000082427 SCV001819276 likely benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000082427 SCV003820308 uncertain significance not provided 2021-09-11 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699202 SCV001923161 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082427 SCV001963008 likely benign not provided no assertion criteria provided clinical testing

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