ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)

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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 Munich, Klinikum Rechts Der Isar, TU München RCV003335817 SCV004045908 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2023-09-19 criteria provided, single submitter clinical testing

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