ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39343G>A (p.Val13115Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004820363 SCV005440772 uncertain significance not provided 2024-06-25 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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