ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu)

dbSNP: rs1878013473
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV002246246 SCV001432752 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2020-04-16 criteria provided, single submitter clinical testing

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