ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58000G>C (p.Val19334Leu)

dbSNP: rs769006307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773976 SCV001994445 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing Not observed 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

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