ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) (rs398122978)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000077753 SCV000109559 pathogenic Nephrotic syndrome, type 9 2013-12-02 no assertion criteria provided literature only
GeneReviews RCV000077753 SCV000494108 pathogenic Nephrotic syndrome, type 9 2016-06-07 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000077753 SCV000863832 pathogenic Nephrotic syndrome, type 9 2018-03-13 no assertion criteria provided clinical testing

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