ClinVar Miner

Submissions for variant NM_020247.4(COQ8A):c.*815C>T

gnomAD frequency: 0.53093  dbSNP: rs10495274
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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 RCV000292165 SCV000483023 benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346994 SCV000483024 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001662360 SCV001874686 benign not provided 2021-05-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001662360 SCV005283555 benign not provided criteria provided, single submitter not provided

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