ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr)

gnomAD frequency: 0.00011  dbSNP: rs375577529
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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) RCV000727771 SCV000855161 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000727771 SCV001830627 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30847666, 29263846)
Revvity Omics, Revvity RCV000727771 SCV003825470 uncertain significance not provided 2021-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727771 SCV004148133 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing

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