ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.144+1G>A

dbSNP: rs2139245731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002246461 SCV001950129 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2021-07-06 criteria provided, single submitter clinical testing

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