ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln)

dbSNP: rs1553316816
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde RCV000516040 SCV000574456 pathogenic Hereditary spastic paraplegia 2017-03-07 criteria provided, single submitter research

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