ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3036C>A (p.Tyr1012Ter)

dbSNP: rs2083566245
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848191 SCV002105700 pathogenic Hereditary spastic paraplegia 2019-06-26 criteria provided, single submitter clinical testing

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