ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.1250C>A (p.Ser417Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV002508855 SCV002818112 likely pathogenic Infantile-onset ascending hereditary spastic paralysis 2022-01-12 criteria provided, single submitter clinical testing

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