ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) (rs1057519347)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091178 SCV001247060 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Precision Medicine Center,Zhengzhou University RCV000416385 SCV001593084 likely pathogenic Nephrotic syndrome, type 9 criteria provided, single submitter research PM2:at extremely low frequency in gnomAD PM3:Pathogenic mutation confirmed in trans PP1:Cosegregation with disease in multiple affected family members PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product
GeneReviews RCV000416385 SCV000494112 pathogenic Nephrotic syndrome, type 9 2016-06-07 no assertion criteria provided literature only

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