ClinVar Miner

Submissions for variant NM_004056.6(CA8):c.100+85T>C

gnomAD frequency: 0.60674  dbSNP: rs7002871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554752 SCV001776055 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001720319 SCV001948122 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001720319 SCV005268330 benign not provided criteria provided, single submitter not provided

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