ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.*887del

dbSNP: rs886049951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369672 SCV000382268 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275184 SCV000382269 uncertain significance Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002248524 SCV000382270 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2016-06-14 criteria provided, single submitter clinical testing

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