ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.*634AT[8]

dbSNP: rs886049952
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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 RCV000371728 SCV000382274 uncertain significance Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268022 SCV000382275 uncertain significance Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV002248526 SCV000382276 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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