ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer)

dbSNP: rs386134187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV000004658 SCV001451110 pathogenic Infantile-onset ascending hereditary spastic paralysis criteria provided, single submitter clinical testing
OMIM RCV000004658 SCV000024832 pathogenic Infantile-onset ascending hereditary spastic paralysis 2002-09-01 no assertion criteria provided literature only
GeneReviews RCV000004658 SCV000058624 pathologic Infantile-onset ascending hereditary spastic paralysis 2011-02-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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