ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3556+4A>G

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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 RCV003224952 SCV003920989 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2023-02-13 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_SUP, PM2_SUP

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