ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) (rs267607084)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001170 SCV000021320 pathogenic Spastic paraplegia 11, autosomal recessive 2015-11-10 no assertion criteria provided literature only
GeneReviews RCV000001170 SCV000058106 pathologic Spastic paraplegia 11, autosomal recessive 2013-01-31 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000193032 SCV000249578 pathogenic Amyotrophic lateral sclerosis type 5 2015-11-10 no assertion criteria provided literature only
OMIM RCV000202382 SCV000257390 pathogenic Charcot-Marie-Tooth disease, axonal type 2X 2015-11-10 no assertion criteria provided literature only

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