ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4821G>C (p.Met1607Ile)

dbSNP: rs104886300
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001089928 SCV001245129 uncertain significance X-linked Alport syndrome 2020-03-11 criteria provided, single submitter clinical testing

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