ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39144dup (p.Glu13049Argfs)

dbSNP: rs1553771661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596669 SCV000708784 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000596669 SCV004036255 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge

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