ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs) (rs312262716)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000001169 SCV001139575 pathogenic Spastic paraplegia 11, autosomal recessive 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000001169 SCV000021319 pathogenic Spastic paraplegia 11, autosomal recessive 2015-11-10 no assertion criteria provided literature only
GeneReviews RCV000001169 SCV000058160 pathologic Spastic paraplegia 11, autosomal recessive 2013-01-31 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000202378 SCV000257389 pathogenic Charcot-Marie-Tooth disease, axonal type 2X 2015-11-10 no assertion criteria provided literature only

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