ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3761G>A (p.Gly1254Glu)

dbSNP: rs2139154554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002246467 SCV001976737 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2021-08-10 criteria provided, single submitter clinical testing PS2, PM1, PM2, PM5, PP2, PP3

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