ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69650A>C (p.Glu23217Ala)

dbSNP: rs72646884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172269 SCV000051144 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172269 SCV001987863 uncertain significance not provided 2021-04-12 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
Revvity Omics, Revvity RCV000172269 SCV003824117 uncertain significance not provided 2020-07-28 criteria provided, single submitter clinical testing

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