ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys)

gnomAD frequency: 0.00004  dbSNP: rs199684560
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574322 SCV001801119 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001574322 SCV003821194 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001574322 SCV004152429 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TTN: BP4
Clinical Genetics, Academic Medical Center RCV001574322 SCV001921351 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001574322 SCV001962737 uncertain significance not provided no assertion criteria provided clinical testing

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