ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)

dbSNP: rs1574787779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991371 SCV001142765 likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile; Juvenile primary lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis 2019-06-20 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995488 SCV001149676 pathogenic Infantile-onset ascending hereditary spastic paralysis 2018-01-15 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV000995488 SCV001451107 pathogenic Infantile-onset ascending hereditary spastic paralysis criteria provided, single submitter clinical testing
Section for Clinical Neurogenetics, University of Tübingen RCV001030773 SCV001156077 likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile 2019-08-01 no assertion criteria provided research

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