ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)

dbSNP: rs2148753625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391511 SCV001450966 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001391511 SCV005374311 pathogenic Hereditary spastic paraplegia 4 2024-09-22 criteria provided, single submitter clinical testing

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