ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81220G>A (p.Gly27074Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002288210 SCV002578844 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing Identified in an individual with features of Holt-Oram syndrome who harbored additional variants in other genes (Li et al., 2018); 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; This variant is associated with the following publications: (PMID: 29461882)
Revvity Omics, Revvity RCV002288210 SCV003823606 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing

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