ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4824G>A (p.Met1608Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002292053 SCV002584247 uncertain significance not provided 2022-04-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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