ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)

gnomAD frequency: 0.00001  dbSNP: rs747481280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic and Experimental Medicine, University of Edinburgh RCV000492219 SCV000323227 likely pathogenic Motor neuron disease 2016-08-31 criteria provided, single submitter case-control

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