ClinVar Miner

Submissions for variant GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001251057 SCV001426460 pathogenic Cerebellar ataxia; Intellectual disability 2020-04-29 no assertion criteria provided clinical testing

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