ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19910A>G (p.Asp6637Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003129536 SCV003806197 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 RCV003129536 SCV003821236 uncertain significance not provided 2019-12-03 criteria provided, single submitter clinical testing

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