ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) (rs111033203)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001731333 SCV001983160 uncertain significance not provided 2021-09-28 criteria provided, single submitter clinical testing Observed in patients with hearing loss in published literature; however, a second variant was not observed in one patient (Tayoun AN et al., 2016; Shen J et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25388846, 26444186, 31160754)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037819 SCV000061481 likely pathogenic Rare genetic deafness 2006-10-28 no assertion criteria provided clinical testing

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