ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.743G>A (p.Arg248His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004769912 SCV005379852 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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