ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu)

dbSNP: rs1603293624
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995741 SCV001150069 likely pathogenic X-linked Alport syndrome 2018-03-15 criteria provided, single submitter clinical testing

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