ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1980G>A (p.Met660Ile)

dbSNP: rs2098746138
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia RCV001261921 SCV001424033 uncertain significance Autosomal recessive ataxia, Beauce type criteria provided, single submitter clinical testing

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