ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31060A>G (p.Lys10354Glu)

gnomAD frequency: 0.00001  dbSNP: rs373209880
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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) RCV000154081 SCV000203725 uncertain significance not provided 2014-02-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000154081 SCV003820319 uncertain significance not provided 2022-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000154081 SCV005685858 uncertain significance not provided 2024-07-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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