ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.239C>A (p.Pro80Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center,Zhengzhou University RCV001391110 SCV001593011 likely pathogenic Focal segmental glomerulosclerosis 7 criteria provided, single submitter research PM1:Mutational hot spot PM2:not found in gnomAD PM5:Another pathogenic missense variant at the same codon PP3:REVEL score >0.7

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