ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)

gnomAD frequency: 0.00002  dbSNP: rs201448988
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592541 SCV000701776 uncertain significance not provided 2017-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000592541 SCV001780220 likely benign not provided 2020-03-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000592541 SCV003826725 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000592541 SCV001744255 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000592541 SCV001926212 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000592541 SCV001931567 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000592541 SCV001957895 uncertain significance not provided no assertion criteria provided clinical testing

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