ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu)

dbSNP: rs1878142219
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV002249683 SCV001250707 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2020-03-17 no assertion criteria provided clinical testing

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