ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln)

dbSNP: rs1397649685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics Facility, Ludwig-Maximilians-Universität München RCV001824233 SCV002073866 likely pathogenic Coenzyme Q10 deficiency, primary, 1 2021-12-28 criteria provided, single submitter clinical testing

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