ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27386del (p.Leu9129fs)

dbSNP: rs2528902972
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002511411 SCV002820728 uncertain significance not provided 2022-07-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease

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