ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.87G>A (p.Trp29Ter)

dbSNP: rs1597597437
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391422 SCV001451029 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000850308 SCV000992483 pathogenic Polyneuropathy no assertion criteria provided clinical testing

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