ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48605G>C (p.Trp16202Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139101 SCV003821711 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
GeneDx RCV003139101 SCV003840525 uncertain significance not provided 2022-09-08 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

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