ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86615_86617del (p.Asp28872del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005054727 SCV005688269 uncertain significance not provided 2024-07-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid 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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