ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.772G>T (p.Gly258Ter)

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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 RCV005247935 SCV005900158 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2025-03-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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