ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) (rs747868017)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410263 SCV000486150 likely pathogenic Spastic ataxia Charlevoix-Saguenay type 2016-04-12 criteria provided, single submitter clinical testing

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