ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1919_1920del (p.His640fs)

dbSNP: rs797045937
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
Genetic Services Laboratory, University of Chicago RCV000192515 SCV000248782 pathogenic Charlevoix-Saguenay spastic ataxia 2014-08-07 criteria provided, single submitter clinical testing

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