ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)

dbSNP: rs1555303720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV002248739 SCV000594188 likely pathogenic Brain small vessel disease 1 with or without ocular anomalies 2015-08-27 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003322607 SCV004027805 likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2023-05-30 criteria provided, single submitter clinical testing Criteria applied: PM1_STR,PS4_SUP,PM2_SUP,PP3

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