ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser)

dbSNP: rs2066231013
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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 RCV001089903 SCV001245120 likely pathogenic X-linked Alport syndrome 2020-03-11 criteria provided, single submitter clinical testing

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