ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)

dbSNP: rs2058357964
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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 RCV001391429 SCV001451044 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001391429 SCV003820061 uncertain significance Hereditary spastic paraplegia 7 2021-12-27 criteria provided, single submitter clinical testing

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