ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.3398C>G (p.Pro1133Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004778877 SCV005388842 uncertain significance not provided 2024-02-29 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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