ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13527dup (p.Glu4510fs)

dbSNP: rs797045936
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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 RCV000194514 SCV000248781 pathogenic Charlevoix-Saguenay spastic ataxia 2014-08-13 criteria provided, single submitter clinical testing

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