ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.965G>T (p.Gly322Val)

dbSNP: rs1569491399
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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, Cologne University RCV005245570 SCV005894682 likely pathogenic X-linked Alport syndrome 2025-02-06 criteria provided, single submitter clinical testing

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