ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)

dbSNP: rs376462712
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710480 SCV000251062 benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379708 SCV000355241 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000264140 SCV000355242 uncertain significance Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710480 SCV000840710 benign not provided 2019-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710480 SCV001069461 benign not provided 2024-09-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710480 SCV004125749 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing COQ8A: BS2

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