ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.1199dup (p.His400fs)

dbSNP: rs398122982
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003421972 SCV004143804 likely pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing COQ8B: PVS1:Strong, PM2, PM3
OMIM RCV000077758 SCV000109564 pathogenic Nephrotic syndrome, type 9 2013-12-02 no assertion criteria provided literature only
GeneReviews RCV000077758 SCV000494118 not provided Nephrotic syndrome, type 9 no assertion provided literature only

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