ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)

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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, University of Leipzig Medical Center RCV003494092 SCV004242492 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2024-08-19 criteria provided, single submitter clinical testing Criteria applied: PM1_STR,PM2,PP3,PP4

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