ClinVar Miner

Submissions for variant NM_015697.8(COQ2):c.590G>A (p.Arg197His) (rs121918231)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000001503 SCV000992726 pathogenic Coenzyme Q10 deficiency, primary 1 2018-10-12 criteria provided, single submitter clinical testing
GeneReviews RCV000416395 SCV000494122 pathogenic Coenzyme Q10 deficiency, primary 2016-06-07 no assertion criteria provided literature only
OMIM RCV000001503 SCV000021658 pathogenic Coenzyme Q10 deficiency, primary 1 2007-10-01 no assertion criteria provided literature only
SingHealth Duke-NUS Institute of Precision Medicine RCV000001503 SCV000853125 likely pathogenic Coenzyme Q10 deficiency, primary 1 2017-06-07 no assertion criteria provided curation

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