ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.616C>T (p.Leu206Phe)

dbSNP: rs769036573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761089 SCV001998654 uncertain significance not provided 2020-01-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge

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