ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1942T>G (p.Ter648Glu)

gnomAD frequency: 0.00001  dbSNP: rs766591347
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SingHealth Duke-NUS Institute of Precision Medicine RCV000721990 SCV000853146 uncertain significance Coenzyme Q10 deficiency, primary, 1 2017-06-07 no assertion criteria provided curation

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