ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bruce Lefroy Centre, Murdoch Childrens Research Institute RCV001072140 SCV001235706 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2020-01-01 criteria provided, single submitter research PM2, PM5, PM6

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