ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)

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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 RCV002468827 SCV002764983 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2021-01-20 criteria provided, single submitter clinical testing

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