ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89065C>T (p.Arg29689Cys)

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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 RCV003137129 SCV003818457 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing
GeneDx RCV003137129 SCV005379490 uncertain significance not provided 2024-04-19 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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