ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2708G>A (p.Gly903Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002287871 SCV002578153 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2022-09-27 criteria provided, single submitter clinical testing

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