ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4930T>C (p.Cys1644Arg)

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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 RCV001262335 SCV001440159 uncertain significance Alport syndrome 1, X-linked recessive 2020-09-02 criteria provided, single submitter clinical testing

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