ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3407-2del

dbSNP: rs2139159594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002247701 SCV002505735 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2021-08-01 criteria provided, single submitter clinical testing

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