ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser)

dbSNP: rs2139162416
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002246531 SCV002061547 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2021-05-20 criteria provided, single submitter clinical testing PP2, PP3, PM1, PM2

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