ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49032G>A (p.Val16344=)

gnomAD frequency: 0.00002  dbSNP: rs587780980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125809 SCV000169279 benign not specified 2014-05-02 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.
Eurofins Ntd Llc (ga) RCV000725203 SCV000334873 uncertain significance not provided 2015-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000725203 SCV003825958 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing

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