ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55627CTC[1] (p.Leu18544del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004592175 SCV005081409 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame 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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