ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.5059G>A (p.Val1687Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003062841 SCV003451688 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV003062841 SCV005386147 uncertain significance not provided 2024-02-26 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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