ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.308A>G (p.Lys103Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766880 SCV001989827 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing Observed in the heterozygous state in a patient with hearing loss in published literature (Huang et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29605365)

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