ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2331+1G>A

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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 RCV003448523 SCV004175960 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2023-11-15 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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