ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1396del (p.Glu466fs)

dbSNP: rs1553280621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626223 SCV000746869 pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2020-05-03 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268163 SCV001446871 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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