ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1413+1_1413+2del

dbSNP: rs1679558544
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
Neurogenetics Laboratory, GH Pitie Salpetriere APHP RCV001269481 SCV001449160 likely pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV001269481 SCV001450985 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing

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