ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72104T>A (p.Phe24035Tyr)

gnomAD frequency: 0.00001  dbSNP: rs759861907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731487 SCV000859311 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000731487 SCV001998663 uncertain significance not provided 2020-01-13 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

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