ClinVar Miner

Submissions for variant GRCh37/hg19 1q42.13(chr1:227149087-227149264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular and Human Genetics, Baylor College of Medicine RCV001195130 SCV001334088 pathogenic Autosomal recessive ataxia due to ubiquinone deficiency 2020-04-16 no assertion criteria provided clinical testing

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