ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)

dbSNP: rs267606929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000007520 SCV004217774 pathogenic Amyotrophic lateral sclerosis type 12 2023-12-28 criteria provided, single submitter clinical testing
OMIM RCV000007520 SCV000027721 pathogenic Amyotrophic lateral sclerosis type 12 2010-05-13 no assertion criteria provided literature only

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