ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16447T>C (p.Trp5483Arg)

dbSNP: rs72648938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570410 SCV001794701 uncertain significance not provided 2020-08-25 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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