ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83065G>C (p.Ala27689Pro)

dbSNP: rs761181487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779686 SCV002015432 uncertain significance not provided 2021-03-25 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense 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; This variant is associated with the following publications: (PMID: 27535533)

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