ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)

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Total submissions: 2
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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 RCV001253065 SCV001428587 uncertain significance Alport syndrome 1, X-linked recessive 2017-09-19 criteria provided, single submitter clinical testing
GeneDx RCV001550519 SCV001770855 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing

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