ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.95+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795505 SCV005415988 likely pathogenic Cerebellar atrophy, visual impairment, and psychomotor retardation; criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PP4

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