ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1353dup (p.Gly452fs)

dbSNP: rs1594568948
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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 RCV002249602 SCV001150044 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2019-06-06 criteria provided, single submitter clinical testing

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