ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs)

dbSNP: rs398122983
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000077759 SCV000109565 pathogenic Nephrotic syndrome, type 9 2013-12-02 no assertion criteria provided literature only
GeneReviews RCV000077759 SCV000494117 not provided Nephrotic syndrome, type 9 no assertion provided literature only
Genomics England Pilot Project, Genomics England RCV000077759 SCV001760450 likely pathogenic Nephrotic syndrome, type 9 no assertion criteria provided clinical testing

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