ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73766A>G (p.Tyr24589Cys)

gnomAD frequency: 0.00001  dbSNP: rs368708895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592146 SCV000703358 uncertain significance not provided 2016-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000592146 SCV001989714 uncertain significance not provided 2019-04-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31983221)
CeGaT Center for Human Genetics Tuebingen RCV000592146 SCV004150289 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing TTN: PM2

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