ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.272A>T (p.Asp91Val)

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Total submissions: 1
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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 RCV002464965 SCV002759330 pathogenic Amyotrophic lateral sclerosis type 1 2022-12-07 criteria provided, single submitter clinical testing

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