ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47129G>A (p.Arg15710His)

gnomAD frequency: 0.00004  dbSNP: rs185689179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733788 SCV000861887 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000733788 SCV000975654 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV001816805 SCV002068925 uncertain significance not specified 2018-04-20 criteria provided, single submitter clinical testing

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