ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.683-1277_870+399del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203471 SCV000258360 pathogenic Spastic paraplegia 4, autosomal dominant 2014-08-07 criteria provided, single submitter research

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