ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99127A>G (p.Ser33043Gly)

dbSNP: rs2468733089
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003321117 SCV004025276 uncertain significance not provided 2025-03-14 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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