ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp)

dbSNP: rs1877801384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia RCV002246258 SCV001424052 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies criteria provided, single submitter clinical testing
Baylor Genetics RCV002246258 SCV004041017 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2023-08-30 criteria provided, single submitter clinical testing

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