ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98021G>A (p.Arg32674His)

gnomAD frequency: 0.00004  dbSNP: rs750969198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171308 SCV000221505 likely pathogenic not provided criteria provided, single submitter research
GeneDx RCV000171308 SCV000237848 likely benign not provided 2020-12-23 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000171308 SCV003820139 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing

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