ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38751del (p.Leu12918fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005063573 SCV005690130 pathogenic not provided 2024-08-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28040389, 29575618, 31660661, 32778822)

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