ClinVar Miner

Submissions for variant NM_004056.6(CA8):c.100+1G>A

dbSNP: rs1563390893
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000678676 SCV000804200 likely pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 2018-08-25 no assertion criteria provided clinical testing The observed variant g.5349G>A (5' splice site) has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is disease causing by Mutation Taster2.

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