ClinVar Miner

Submissions for variant NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp) (rs397514479)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000024300 SCV000494137 pathogenic Coenzyme Q10 deficiency, primary, 6 2016-06-07 no assertion criteria provided literature only
OMIM RCV000024300 SCV000045591 pathogenic Coenzyme Q10 deficiency, primary, 6 2011-05-01 no assertion criteria provided literature only

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