ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.138del (p.Ala47fs)

dbSNP: rs386134173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004655 SCV000024829 pathogenic Amyotrophic lateral sclerosis type 2, juvenile 2001-10-01 no assertion criteria provided literature only
GeneReviews RCV000004655 SCV000058584 pathologic Amyotrophic lateral sclerosis type 2, juvenile 2011-02-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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