ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2441C>T (p.Ala814Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004007848 SCV004822774 uncertain significance Ehlers-Danlos syndrome, type 4 2022-11-28 criteria provided, single submitter clinical testing

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