ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.651G>A (p.Ala217=)

gnomAD frequency: 0.00076  dbSNP: rs199581249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000898990 SCV000512745 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25373618)
Invitae RCV000898990 SCV001043231 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488875 SCV002799853 likely benign Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 2021-08-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000898990 SCV004699174 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing COQ2: BP4, BP7

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