ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5415dup (p.Lys1806fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV005054516 SCV005687797 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2024-12-11 criteria provided, single submitter clinical testing

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