ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His) (rs759611506)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839202 SCV000981088 uncertain significance not provided 2021-04-08 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
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001257028 SCV001433584 uncertain significance Rare genetic intellectual disability no assertion criteria provided clinical testing

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