ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.247T>C (p.Phe83Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002464774 SCV002758926 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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