ClinVar Miner

Submissions for variant NM_015697.8(COQ2):c.1159C>T (p.Arg387Ter) (rs751185256)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000054430 SCV000082907 risk factor Shy-Drager syndrome 2019-09-12 no assertion criteria provided literature only
GeneReviews RCV000416412 SCV000494126 pathogenic Coenzyme Q10 deficiency, primary 2016-06-07 no assertion criteria provided literature only

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