ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003988706 SCV004804817 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2024-02-27 criteria provided, single submitter clinical testing

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