ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.694G>A (p.Glu232Lys)

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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, University of Leipzig Medical Center RCV004759568 SCV005368244 uncertain significance Ehlers-Danlos syndrome, type 4 2024-07-31 criteria provided, single submitter clinical testing Criteria applied: PM2,PP2,PP3

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