ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.*349G>A

gnomAD frequency: 0.00729  dbSNP: rs113041399
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316763 SCV000355300 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000355080 SCV000355301 uncertain significance Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002510837 SCV002821467 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing COQ8A: BS1
Breakthrough Genomics, Breakthrough Genomics RCV002510837 SCV005186299 uncertain significance not provided criteria provided, single submitter not provided

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