ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51301G>A (p.Glu17101Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139093 SCV003821692 uncertain significance not provided 2021-09-28 criteria provided, single submitter clinical testing
GeneDx RCV003139093 SCV005628877 uncertain significance not provided 2024-07-18 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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