ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.[3490G>T];[687G>A]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diagnostic Laboratory, University of Szeged RCV000207840 SCV000262760 pathogenic Autosomal recessive Alport syndrome 2016-02-02 criteria provided, single submitter clinical testing

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