ClinVar Miner

Variants with conflicting interpretations "pathogenic" from National Institute of Neuroscience, National Center of Neurology and Psychiatry and "likely pathogenic" from Neurogenetics Laboratory, GH Pitie Salpetriere APHP

Minimum review status of the submission from National Institute of Neuroscience, National Center of Neurology and Psychiatry: Collection method of the submission from National Institute of Neuroscience, National Center of Neurology and Psychiatry:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991

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