ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65185G>C (p.Glu21729Gln)

dbSNP: rs375439506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592049 SCV001822263 uncertain significance not provided 2020-06-15 criteria provided, single submitter clinical testing Not observed 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
Revvity Omics, Revvity RCV001592049 SCV003821750 uncertain significance not provided 2021-09-13 criteria provided, single submitter clinical testing

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