ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3556+54_3877-1090del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) RCV003228736 SCV003925557 pathogenic Brain small vessel disease 1 with or without ocular anomalies criteria provided, single submitter clinical testing

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