ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.*348dup

dbSNP: rs542593202
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000356901 SCV000451426 uncertain significance Coenzyme Q10 deficiency 2016-06-14 criteria provided, single submitter clinical testing

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