ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1477G>T (p.Asp493Tyr) (rs1060499939)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000468399 SCV000540927 likely pathogenic Spastic paraplegia 4, autosomal dominant 2017-04-12 criteria provided, single submitter research There is a second alternative allele (C) as this same base pair location in this patient.

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